Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV002039714 | SCV002110932 | uncertain significance | Arrhythmogenic right ventricular dysplasia 11 | 2021-09-15 | 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with DSC2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces histidine with aspartic acid at codon 65 of the DSC2 protein (p.His65Asp). The histidine residue is moderately conserved and there is a moderate physicochemical difference between histidine and aspartic acid. |
| Ambry Genetics | RCV004038869 | SCV003642886 | uncertain significance | Cardiovascular phenotype | 2022-07-26 | criteria provided, single submitter | clinical testing | The c.193C>G (p.H65D) alteration is located in exon 3 (coding exon 3) of the DSC2 gene. This alteration results from a C to G substitution at nucleotide position 193, causing the histidine (H) at amino acid position 65 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |