ClinVar Miner

Submissions for variant NM_005159.5(ACTC1):c.964C>G (p.Leu322Val)

dbSNP: rs1891695577
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002018199 SCV002301596 uncertain significance Hypertrophic cardiomyopathy 11; Dilated cardiomyopathy 1R; Atrial septal defect 5 2021-02-21 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with ACTC1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C25"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with valine at codon 322 of the ACTC1 protein (p.Leu322Val). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and valine.

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