ClinVar Miner

Submissions for variant NM_001018005.2(TPM1):c.177A>G (p.Lys59=)

gnomAD frequency: 0.00031  dbSNP: rs149346709
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000629065 SCV000749978 likely benign Hypertrophic cardiomyopathy 2024-01-21 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001179131 SCV001343738 likely benign Cardiomyopathy 2019-05-13 criteria provided, single submitter clinical testing
GeneDx RCV001619815 SCV001847485 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002404722 SCV002714863 likely benign Cardiovascular phenotype 2019-03-26 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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