ClinVar Miner

Submissions for variant NM_005159.5(ACTC1):c.513C>T (p.Tyr171=)

gnomAD frequency: 0.00022  dbSNP: rs145023222
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000038331 SCV000062002 likely benign not specified 2013-08-22 criteria provided, single submitter clinical testing Tyr171Tyr in exon 3 of ACTC1: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been identified in 0.2% (8/4402) of Afr ican American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/; dbSNP rs145023222). Tyr171Tyr in ex on 3 of ACTC1 (rs145023222; allele frequency = 0.2%, 8/4402) **
GeneDx RCV000038331 SCV000166840 benign not specified 2012-11-28 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000233183 SCV000288807 likely benign Hypertrophic cardiomyopathy 11; Dilated cardiomyopathy 1R; Atrial septal defect 5 2024-01-02 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001188115 SCV001355087 likely benign Cardiomyopathy 2019-07-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002336139 SCV002642332 likely benign Cardiovascular phenotype 2018-11-30 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 RCV003996401 SCV004844834 likely benign Hypertrophic cardiomyopathy 2024-01-03 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.