ClinVar Miner

Submissions for variant NM_005159.5(ACTC1):c.1038C>T (p.Ser346=)

gnomAD frequency: 0.00001  dbSNP: rs748062476
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000770509 SCV000901954 likely benign Cardiomyopathy 2025-04-16 criteria provided, single submitter clinical testing This variant is not expected to have a clinical significance (likely benign) because it does not alter the protein sequence and it is not located within the splice consensus sequence, it is not predicted to have a significant effect on splicing, and this nucleotide is not highly conserved. This variant is listed in ClinVar (VCV000626825). This variant has an allele frequency or Grpmax Filtering Allele Frequency less than 0.03% in one or multiple control populations (gnomAD database).
Color Diagnostics, LLC DBA Color Health RCV000770509 SCV001347701 likely benign Cardiomyopathy 2018-11-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001410310 SCV001612355 likely benign Hypertrophic cardiomyopathy 11; Dilated cardiomyopathy 1R; Atrial septal defect 5 2024-12-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002388391 SCV002699947 likely benign Cardiovascular phenotype 2022-01-30 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 RCV003999944 SCV004844805 likely benign Hypertrophic cardiomyopathy 2023-12-18 criteria provided, single submitter clinical testing

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