Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000694050 | SCV000822477 | uncertain significance | Arrhythmogenic right ventricular dysplasia 11 | 2021-08-27 | criteria provided, single submitter | clinical testing | This sequence change replaces isoleucine with threonine at codon 594 of the DSC2 protein (p.Ile594Thr). The isoleucine residue is moderately conserved and there is a moderate physicochemical difference between isoleucine and threonine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with DSC2-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C25"). 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. |
Human Genome Sequencing Center Clinical Lab, |
RCV000694050 | SCV001435108 | uncertain significance | Arrhythmogenic right ventricular dysplasia 11 | criteria provided, single submitter | clinical testing | ||
Ambry Genetics | RCV003163175 | SCV003853630 | uncertain significance | Cardiovascular phenotype | 2023-06-13 | criteria provided, single submitter | clinical testing | The c.1781T>C (p.I594T) alteration is located in exon 12 (coding exon 12) of the DSC2 gene. This alteration results from a T to C substitution at nucleotide position 1781, causing the isoleucine (I) at amino acid position 594 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |