ClinVar Miner

Submissions for variant NM_003673.4(TCAP):c.157C>T (p.Gln53Ter)

gnomAD frequency: 0.00001  dbSNP: rs104894655
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Genetics and Molecular Cardiology, University of São Paulo RCV000037790 SCV000256201 likely pathogenic Hypertrophic cardiomyopathy 25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001380074 SCV001578016 pathogenic Hypertrophic cardiomyopathy 25; Primary familial hypertrophic cardiomyopathy 2025-01-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln53*) in the TCAP gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 115 amino acid(s) of the TCAP protein. This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individuals with autosomal recessive limb-girdle muscular dystrophy (PMID: 10655062, 23479141, 25298746). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 5525). For these reasons, this variant has been classified as Pathogenic.
DASA RCV000005861 SCV002061214 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2G 2022-01-05 criteria provided, single submitter clinical testing The c.157C>T;p.(Gln53*) variant creates a premature translational stop signal in the TCAP gene. It is expected to result in an absent or disrupted protein product -PVS1_strong. This sequence change has been observed in affected individual(s) and ClinVar contains an entry for this variant (ClinVar ID: 5525; PMID: 10655062; PMID: 27618135; PMID: 25298746) - PS4. The variant is present at low allele frequencies population databases (rs104894655 – gnomAD 0.001314%; ABraOM 0.001281 frequency - http://abraom.ib.usp.br/) -PM2_supporting. In summary, the currently available evidence indicates that the variant is pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002496272 SCV002810469 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2G; Hypertrophic cardiomyopathy 25 2021-08-31 criteria provided, single submitter clinical testing
OMIM RCV000005861 SCV000026043 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2G 2000-02-01 no assertion criteria provided literature only
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000211741 SCV000061452 likely pathogenic Primary dilated cardiomyopathy 2009-10-09 no assertion criteria provided clinical testing

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