ClinVar Miner

Submissions for variant NM_005159.5(ACTC1):c.465G>A (p.Leu155=)

gnomAD frequency: 0.00007  dbSNP: rs397517062
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Total submissions: 6
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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 RCV000038329 SCV000062000 likely benign not specified 2010-09-02 criteria provided, single submitter clinical testing This variant is not expected to have clinical significance because it does not a lter an amino acid residue and is not located near a splice junction. Therefore, it is unlikely that this variant is disease-causing.
GeneDx RCV001719752 SCV000511963 likely benign not provided 2021-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000476490 SCV000561260 likely benign Hypertrophic cardiomyopathy 11; Dilated cardiomyopathy 1R; Atrial septal defect 5 2023-10-24 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001180299 SCV001345194 likely benign Cardiomyopathy 2019-01-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV002336138 SCV002638085 likely benign Cardiovascular phenotype 2020-07-06 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.
All of Us Research Program, National Institutes of Health RCV003996400 SCV004844836 likely benign Hypertrophic cardiomyopathy 2023-12-18 criteria provided, single submitter clinical testing

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