ClinVar Miner

Submissions for variant NM_005159.5(ACTC1):c.725A>G (p.Tyr242Cys)

dbSNP: rs2140430561
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002008022 SCV002262288 likely pathogenic Hypertrophic cardiomyopathy 11; Dilated cardiomyopathy 1R; Atrial septal defect 5 2021-04-20 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has been observed in individual(s) with dilated cardiomyopathy (Invitae). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (ExAC no frequency). This sequence change replaces tyrosine with cysteine at codon 242 of the ACTC1 protein (p.Tyr242Cys). The tyrosine residue is highly conserved and there is a large physicochemical difference between tyrosine and cysteine.
Baylor Genetics RCV003147721 SCV003835109 uncertain significance Atrial septal defect 5 2021-01-29 criteria provided, single submitter clinical testing
Baylor Genetics RCV003147719 SCV003835707 uncertain significance Dilated cardiomyopathy 1R 2021-01-29 criteria provided, single submitter clinical testing
Baylor Genetics RCV003147720 SCV003836042 uncertain significance Hypertrophic cardiomyopathy 11 2021-01-29 criteria provided, single submitter clinical testing

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