3 Matching Annotations
  1. Last 7 days
  2. link.springer.com link.springer.com
    Mutations in the sarcosine dehydrogenase gene in patients with sarcosinemia
    3
    1. ClingenBaseline 21 Oct 2026
      E

      CaseE: Male, French, Germany

      CasePresentingHPOs: HP:0010896, HP:0010897 (Hypersarcosinemia, Hypersarcosinuria)

      HPOsFreeText: Elevated blood Sarcosine (192 μmol/l; reference 0-9), Elevated urine Sarcosine (645 μmol/mmol; reference 0-36)

      CaseNotHPOs: N/A

      NotHPOsFreeText: N/A

      CaseAddInfo: Phase of the variants are unknown

      CasePreviousTesting: N/A

      CaseGenotypingMethod: DNA was extracted from the probands and immediate family. The whole coding region and the exon-intron boundaries of the SARDH gene was then amplified and sequenced.

      Variant1: NM_007101.3:c.1540C>T (p.Arg514Ter)

      ClinVar: 39451 https://www.ncbi.nlm.nih.gov/clinvar/variation/39451/

      gnomAD: Latino 2.154e-4, Overall 1.120e-4 https://gnomad.broadinstitute.org/variant/9-136570084-G-A

      Variant2: NM_007101.3:c.2167C>T (p.Arg723Ter)

      ClinVar: 39450 https://www.ncbi.nlm.nih.gov/clinvar/variation/39450/

      gnomAD: African 9.899e-5, Overall 5.729e-6 http://gnomad.broadinstitute.org/variant/9-136536816-G-A

      Individual CaseInfo Variant GenotypingMethod inferred_gene_hgnc:10536 inferred_gene_source:RefSeq ClinGen Aminoacidopathy
    2. ClingenBaseline 21 Oct 2026
      D

      CaseD: Male, French, Quebec

      CasePresentingHPOs: HP:0010896, HP:0010897 (Hypersarcosinemia, Hypersarcosinuria)

      HPOsFreeText: Elevated blood Sarcosine (229 μmol/l; reference 0-9), Elevated urine Sarcosine (1213 μmol/mmol; reference 0-36)

      CaseNotHPOs: N/A

      NotHPOsFreeText: N/A

      CaseAddInfo: N/A

      CasePreviousTesting: N/A

      CaseGenotypingMethod: DNA was extracted from the probands and immediate family. The whole coding region and the exon-intron boundaries of the SARDH gene was then amplified and sequenced.

      Variant: NM_007101.3:c.860C>T (p.Pro287Leu)

      ClinVar: 39449 https://www.ncbi.nlm.nih.gov/clinvar/variation/39449/

      gnomAD: European (Finnish) 1.692e-4, Overall 1.032e-4 http://gnomad.broadinstitute.org/variant/9-136594942-G-A

      Individual CaseInfo Variant GenotypingMethod inferred_gene_hgnc:10536 inferred_gene_source:RefSeq ClinGen Aminoacidopathy
    3. ClingenBaseline 21 Oct 2026
      D

      CaseD: Male, French, Quebec

      CasePresentingHPOs: HP:0010896, HP:0010897 (Hypersarcosinemia, Hypersarcosinuria)

      HPOsFreeText: Elevated blood Sarcosine (229 μmol/l; reference 0-9), Elevated urine Sarcosine (1213 μmol/mmol; reference 0-36)

      CaseNotHPOs: N/A

      NotHPOsFreeText: N/A

      CaseAddInfo: N/A

      CasePreviousTesting: N/A

      CaseGenotypingMethod: DNA was extracted from the probands and immediate family. The whole coding region and the exon-intron boundaries of the SARDH gene was then amplified and sequenced.

      Variant: NM_007101.3:c.860C>T (p.Pro287Leu)

      ClinVar: 39449 https://www.ncbi.nlm.nih.gov/clinvar/variation/39449/

      gnomAD: European (Finnish) 1.692e-4, Overall 1.032e-4 http://gnomad.broadinstitute.org/variant/9-136594942-G-A

      Individual CaseInfo Variant GenotypingMethod inferred_gene_hgnc:10536 inferred_gene_source:RefSeq ClinGen Aminoacidopathy
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    link.springer.com/article/10.1007/s00439-012-1207-x