Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001061623 | SCV001226371 | uncertain significance | Arrhythmogenic right ventricular dysplasia 11 | 2019-05-15 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (ExAC no frequency). 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 output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glycine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with DSC2-related conditions. This sequence change replaces serine with glycine at codon 614 of the DSC2 protein (p.Ser614Gly). The serine residue is moderately conserved and there is a small physicochemical difference between serine and glycine. |
Color Diagnostics, |
RCV001177493 | SCV001341718 | likely benign | Cardiomyopathy | 2019-06-17 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004030429 | SCV003583297 | uncertain significance | Cardiovascular phenotype | 2021-09-16 | criteria provided, single submitter | clinical testing | The c.1840A>G (p.S614G) alteration is located in exon 12 (coding exon 12) of the DSC2 gene. This alteration results from a A to G substitution at nucleotide position 1840, causing the serine (S) at amino acid position 614 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
All of Us Research Program, |
RCV004000121 | SCV004816118 | likely benign | Familial isolated arrhythmogenic right ventricular dysplasia | 2023-06-26 | criteria provided, single submitter | clinical testing |