Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000648301 | SCV000770115 | uncertain significance | Hypertrophic cardiomyopathy 11; Dilated cardiomyopathy 1R; Atrial septal defect 5 | 2017-11-28 | criteria provided, single submitter | clinical testing | 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. 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 C55"). This variant has not been reported in the literature in individuals with ACTC1-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with glycine at codon 325 of the ACTC1 protein (p.Ser325Gly). The serine residue is highly conserved and there is a small physicochemical difference between serine and glycine. |
| Ambry Genetics | RCV002386088 | SCV002693705 | uncertain significance | Cardiovascular phenotype | 2019-09-21 | criteria provided, single submitter | clinical testing | The p.S325G variant (also known as c.973A>G), located in coding exon 5 of the ACTC1 gene, results from an A to G substitution at nucleotide position 973. The serine at codon 325 is replaced by glycine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |