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  1. Last 7 days
  2. www.sciencedirect.com www.sciencedirect.com
    Mutations in JPH2-encoded junctophilin-2 associated with hypertrophic cardiomyopathy in humans
    2
    1. ClingenBaseline 23 Oct 2026
      As summarized in Table 2, the JPH2 genotype positive subjects were diagnosed with HCM at 27, 24 and 30 years with septal wall thicknesses of 22, 38 and 18 mm for each mutation respectively.

      Case 2: male, diagnosed at 24 yrs, 38mm septal wall thickness, no mutations in HCM associated genes, no family history

      HP:0002094, HP:0001681, HP:0001962, (dyspnea, angina pectoris, palpitations)

      Variant: NM_020433.4(JPH2):c.421T>C (p.Tyr141His)

      Clinvar ID: 30456

      https://www.ncbi.nlm.nih.gov/clinvar/variation/30456/

      ExAC Freq: 1.772e-05

      Case Individual Clinical Variant inferred_gene_hgnc:14202 inferred_gene_source:RefSeq UNC Biocuration Core
    2. ClingenBaseline 23 Oct 2026
      As summarized in Table 2, the JPH2 genotype positive subjects were diagnosed with HCM at 27, 24 and 30 years with septal wall thicknesses of 22, 38 and 18 mm for each mutation respectively

      Case 3: Female, diagnosed at 30 yrs, 18mm septal wall thickness, no mutations in HCM associated genes, no family history

      HP:0002094, HP:0006689, (dyspnea, bacterial endocarditis)

      Variant: NM_020433.4(JPH2):c.494C>T (p.Ser165Phe),

      ClinVar ID: 30457

      https://www.ncbi.nlm.nih.gov/clinvar/variation/30457/

      not in ExAC

      Case Individual Clinical Variant inferred_gene_hgnc:14202 inferred_gene_source:RefSeq UNC Biocuration Core
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    sciencedirect.com/science/article/pii/S0022282807009807
  3. search-proquest-com.libproxy.lib.unc.edu search-proquest-com.libproxy.lib.unc.edu
    Mutation E169K in Junctophilin-2 Causes Atrial Fibrillation Due to Impaired RyR2 Stabilization - ProQuest
    1
    1. ClingenBaseline 23 Oct 2026
      another JPH2 variant (A405S) was identified in a Caucasian male whose HCM was diagnosed at age 16 years. This proband presented with dyspnea, chest pain, and dizziness. He later developed basal septal morphology hypertrophy (23 mm) and was diagnosed with HCM. He had no family history of HCM or sudden cardiac death; both parents were genotype negative and never developed QTc prolongation or supraventricular arrhythmias.

      Case 2: male, dx at 16 yrs, no family history of HCM, both parents genotype neg

      HP:0001639, HP:0002094, HP:0100749, HP:0002321

      HCM, dyspnea, chest pain

      Variant: NM_020433.4(JPH2):c.1213G>T (p.Ala405Ser)

      ClinVar ID: 372724, https://www.ncbi.nlm.nih.gov/clinvar/variation/372724/

      ExAC Frequency: 1.45e-5, http://gnomad.broadinstitute.org/variant/20-42747220-C-A

      Case Individual Variant inferred_gene_hgnc:14202 inferred_gene_source:RefSeq UNC Biocuration Core
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    search-proquest-com.libproxy.lib.unc.edu/docview/1552884646
  4. journals.plos.org journals.plos.org
    Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy
    1
    1. ClingenBaseline 22 Oct 2026

      Supplementary Data: S2 Table

      Case 237: Spanish, 55yo, Male

      DiseaseAssertion: Hypertrophic Cardiomyopathy

      CasePreviousTesting: Full Testing (MYBPC3, TNNT2, TNNI3, MYL2, MYL3, TPM1, ACTC1), additional testing listed in supplementary data table S1

      CaseGenotypingMethod: genomic DNA obtained from blood or saliva, Next-gen sequencing panels of 55 or 78 genes

      Variant: NM_000257.3(MYH7):c.4954G>T (p.Asp1652Tyr)

      ClinVar: 43047, https://www.ncbi.nlm.nih.gov/clinvar/variation/43047/

      gnomAD: 0.00004774, https://gnomad.broadinstitute.org/variant/14-23885041-C-A

      MultipleGeneVariants:

      (1) JPH2 Variant:

      Variant: NM_020433.4:c.1009G>A

      CAID: CA409093203, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA409093203

      gnomAD: n/a

      Individual CaseInfo HCM FullPreviousTesting AdditionalPreviousTesting NoInheritanceAssertion ClinVarID:43047 MultipleGeneVariants SupplementalData inferred_gene_hgnc:14202 inferred_gene_source:CAID Cardiomyopathy Annotation
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    journals.plos.org/plosone/article