Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002755308 | SCV003010985 | uncertain significance | Arrhythmogenic right ventricular dysplasia 10 | 2023-07-22 | 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. 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 DSG2 protein function. ClinVar contains an entry for this variant (Variation ID: 1968968). This variant has not been reported in the literature in individuals affected with DSG2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 177 of the DSG2 protein (p.Leu177Pro). |
Ambry Genetics | RCV003375680 | SCV004096428 | uncertain significance | Cardiovascular phenotype | 2023-07-15 | criteria provided, single submitter | clinical testing | The p.L177P variant (also known as c.530T>C), located in coding exon 6 of the DSG2 gene, results from a T to C substitution at nucleotide position 530. The leucine at codon 177 is replaced by proline, an amino acid with similar properties. This amino acid position is conserved. 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. |