Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Illumina Laboratory Services, |
RCV001116148 | SCV001274188 | benign | Melanoma, cutaneous malignant, susceptibility to, 5 | 2017-08-04 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign. |
| Labcorp Genetics |
RCV001116148 | SCV003477747 | uncertain significance | Melanoma, cutaneous malignant, susceptibility to, 5 | 2023-10-20 | criteria provided, single submitter | clinical testing | This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 290 of the MC1R protein (p.Asn290Ser). This variant is present in population databases (rs373703770, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with MC1R-related conditions. ClinVar contains an entry for this variant (Variation ID: 884858). 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 MC1R protein function. 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. |