ClinVar Miner

Submissions for variant NM_005159.5(ACTC1):c.188A>G (p.Lys63Arg) (rs794727502)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000177225 SCV000229066 uncertain significance not provided 2015-02-19 criteria provided, single submitter clinical testing
Invitae RCV000530584 SCV000650033 uncertain significance Familial hypertrophic cardiomyopathy 11; Dilated cardiomyopathy 1R; Atrial septal defect 5 2017-07-31 criteria provided, single submitter clinical testing This sequence change replaces lysine with arginine at codon 63 of the ACTC1 protein (p.Lys63Arg). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with ACTC1-related disease. ClinVar contains an entry for this variant (Variation ID: 196406). Algorithms developed to predict the effect of missense changes on protein structure and function 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.

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