ClinVar Miner

Submissions for variant NM_003673.4(TCAP):c.34dup (p.Glu12fs)

dbSNP: rs1555606959
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Tehran Medical Genetics Laboratory RCV000625732 SCV000692575 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2G 2016-09-20 criteria provided, single submitter clinical testing
Kariminejad - Najmabadi Pathology & Genetics Center RCV001814199 SCV001755291 pathogenic Abnormality of the musculature 2021-07-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001860466 SCV002192125 pathogenic Hypertrophic cardiomyopathy 25; Primary familial hypertrophic cardiomyopathy 2021-05-04 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with TCAP-related conditions. ClinVar contains an entry for this variant (Variation ID: 522598). This sequence change creates a premature translational stop signal (p.Glu12Glyfs*5) in the TCAP gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TCAP are known to be pathogenic (PMID: 10655062, 21530252, 25055047). This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic.

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