Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001380614 | SCV001578736 | pathogenic | Hypertrophic cardiomyopathy 11; Dilated cardiomyopathy 1R; Atrial septal defect 5 | 2023-04-28 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt ACTC1 protein function. ClinVar contains an entry for this variant (Variation ID: 18325). This variant is also known as c.253G>T (p.Ala295Ser). This missense change has been observed in individual(s) with hypertrophic cardiomyopathy (PMID: 10330430, 28771489). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces alanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 297 of the ACTC1 protein (p.Ala297Ser). |
| OMIM | RCV000019990 | SCV000040288 | pathogenic | Hypertrophic cardiomyopathy 11 | 1999-05-15 | no assertion criteria provided | literature only |