ClinVar Miner

Submissions for variant NM_001103.4(ACTN2):c.2541G>A (p.Ala847=)

gnomAD frequency: 0.00008  dbSNP: rs374278766
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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 RCV000555894 SCV000636959 benign Dilated cardiomyopathy 1AA; Primary familial hypertrophic cardiomyopathy 2024-01-18 criteria provided, single submitter clinical testing
GeneDx RCV001722471 SCV000722098 likely benign not provided 2019-01-22 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000610343 SCV001442558 benign not specified 2020-10-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002431586 SCV002740594 likely benign Cardiovascular phenotype 2018-12-29 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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