ClinVar Miner

Submissions for variant NM_003673.4(TCAP):c.270G>A (p.Pro90=)

gnomAD frequency: 0.00017  dbSNP: rs372538567
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000724709 SCV000227293 uncertain significance not provided 2015-04-09 criteria provided, single submitter clinical testing
GeneDx RCV000225714 SCV000236402 benign not specified 2014-09-26 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001079627 SCV001010181 likely benign Hypertrophic cardiomyopathy 25; Primary familial hypertrophic cardiomyopathy 2024-01-28 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000225714 SCV001432027 benign not specified 2020-08-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002426843 SCV002743528 likely benign Cardiovascular phenotype 2019-10-18 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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