ClinVar Miner

Submissions for variant NM_001018005.2(TPM1):c.549T>C (p.Ala183=)

gnomAD frequency: 0.00003  dbSNP: rs199476313
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Total submissions: 5
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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 RCV000036343 SCV000059995 likely benign not specified 2008-03-01 criteria provided, single submitter clinical testing
Invitae RCV000457052 SCV000558815 likely benign Hypertrophic cardiomyopathy 2023-12-01 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001184822 SCV001350899 likely benign Cardiomyopathy 2019-12-09 criteria provided, single submitter clinical testing
GeneDx RCV001650860 SCV001871049 likely benign not provided 2021-03-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002345288 SCV002650155 likely benign Cardiovascular phenotype 2021-02-09 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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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