ClinVar Miner

Submissions for variant NM_005159.5(ACTC1):c.513C>T (p.Tyr171=) (rs145023222)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare 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 (; 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.
Invitae RCV000233183 SCV000288807 likely benign Familial hypertrophic cardiomyopathy 11; Dilated cardiomyopathy 1R; Atrial septal defect 5 2019-12-31 criteria provided, single submitter clinical testing
Color RCV001188115 SCV001355087 likely benign Cardiomyopathy 2019-07-15 criteria provided, single submitter clinical testing

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