ClinVar Miner

Submissions for variant NM_005159.5(ACTC1):c.997G>C (p.Ala333Pro)

dbSNP: rs267606629
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001040562 SCV001204143 pathogenic Hypertrophic cardiomyopathy 11; Dilated cardiomyopathy 1R; Atrial septal defect 5 2019-11-27 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has been reported to affect ACTC1 protein function (PMID: 24793351, 24736382). This variant has been observed in individual(s) with hypertrophic cardiomyopathy (PMID: 10966831). In at least one individual the variant was observed to be de novo. This variant is also known as p.Ala331Pro in the literature. ClinVar contains an entry for this variant (Variation ID: 18329). This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with proline at codon 333 of the ACTC1 protein (p.Ala333Pro). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and proline.
OMIM RCV000019994 SCV000040292 pathogenic Hypertrophic cardiomyopathy 11 2000-09-01 no assertion criteria provided literature only

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