Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Illumina Laboratory Services, |
RCV001119089 | SCV001277432 | uncertain significance | Melanoma, cutaneous malignant, susceptibility to, 5 | 2017-04-28 | 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. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
| Labcorp Genetics |
RCV001119089 | SCV001491374 | uncertain significance | Melanoma, cutaneous malignant, susceptibility to, 5 | 2021-04-04 | 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has been observed in individual(s) with melanoma (PMID: 20876876, 16982779). This variant is present in population databases (rs749385653, ExAC 0.002%). This sequence change replaces alanine with glycine at codon 218 of the MC1R protein (p.Ala218Gly). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and glycine. |