Total submissions: 2
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 |