ClinVar Miner

Submissions for variant NM_003673.4(TCAP):c.132C>T (p.Asp44=)

gnomAD frequency: 0.00006  dbSNP: rs397516861
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000037789 SCV000061451 likely benign not specified 2015-03-18 criteria provided, single submitter clinical testing p.Asp44Asp in exon 2 of TCAP: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been identified in 13/52820 European ch romosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute. org; dbSNP rs397516861).
Eurofins Ntd Llc (ga) RCV000725726 SCV000338877 uncertain significance not provided 2017-01-20 criteria provided, single submitter clinical testing
GeneDx RCV000725726 SCV000526320 likely benign not provided 2021-01-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001086873 SCV001005633 likely benign Hypertrophic cardiomyopathy 25; Primary familial hypertrophic cardiomyopathy 2024-01-05 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000037789 SCV001442728 benign not specified 2020-10-01 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001798118 SCV002043242 likely benign Cardiomyopathy 2020-05-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002381306 SCV002692281 likely benign Cardiovascular phenotype 2018-08-06 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.
CeGaT Center for Human Genetics Tuebingen RCV000725726 SCV004138248 likely benign not provided 2023-08-01 criteria provided, single submitter clinical testing TCAP: BP4, BP7

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