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    Germline mutations in the new E1' cryptic exon of the VHL gene in patients with tumours of von Hippel-Lindau disease spectrum or with paraganglioma
    1
    1. ClingenBaseline 10 Nov 2026
      #7bilccRCC(49–51)NAc.340+578C>Trs1396223560.05NANANANANAVUS

      PatientID: 7

      KindredID: 7

      Case: Sex Unknown, 51Y0M, Ethnicity Unknown

      DiseaseAssertion: clear cell renal cell carcinoma

      FamilyInfo: N/A - not stated

      CasePresentingHPOs: HP:0006770 (clear cell renal cell carcinoma)

      CaseHPOFreeText: Bilateral clear cell RCC was first diagnosed between 49-51Y of age

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Yes

      Variant: c.340+578C>T

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 849869 https://www.ncbi.nlm.nih.gov/clinvar/variation/849869/

      CAID: N/A

      gnomAD: 0.0005097 https://gnomad.broadinstitute.org/variant/3-10184449-C-T

      VariantEvidence: N/A

      MutationType: splice_site_variant; intron_variant

      CivicName: Splice Site (c.340+578C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline AssumedRefSeq:NM_000551.3 DiseaseEntity:clearcellrenalcellcarcinoma AgeOfPresentation:clearcellrenalcellcarcinoma:50 CivicName:SpliceSite(c.340+578C>T) MutationType:splice_site_variant AminoAcidChange:N/A cDNAposition:N/A ProteinPosition:N/A ClinVarID:849869 ClinVarID:Yes SupplementalData NoFamilyInfo MutationType:intron_variant inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC7387210/