ClinVar Miner

Submissions for variant NM_001018005.2(TPM1):c.783C>T (p.Tyr261=)

gnomAD frequency: 0.00004  dbSNP: rs751001221
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000443465 SCV000531711 likely benign not specified 2016-09-07 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.
Color Diagnostics, LLC DBA Color Health RCV001188683 SCV001355809 likely benign Cardiomyopathy 2019-11-05 criteria provided, single submitter clinical testing
Invitae RCV002063459 SCV002386089 likely benign Hypertrophic cardiomyopathy 2023-11-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002411387 SCV002670031 likely benign Cardiovascular phenotype 2020-03-11 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.
Fulgent Genetics, Fulgent Genetics RCV002488954 SCV002803652 likely benign Hypertrophic cardiomyopathy 3; Dilated cardiomyopathy 1Y 2021-08-09 criteria provided, single submitter clinical testing

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