Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Illumina Laboratory Services, |
RCV001121054 | SCV001279604 | uncertain significance | Melanoma, cutaneous malignant, susceptibility to, 5 | 2017-04-27 | 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 |
RCV001121054 | SCV002134336 | uncertain significance | Melanoma, cutaneous malignant, susceptibility to, 5 | 2021-09-09 | 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 disruptive. ClinVar contains an entry for this variant (Variation ID: 887988). This missense change has been observed in individual(s) with cutaneous melanoma (PMID: 23360207). This variant is not present in population databases (ExAC no frequency). This sequence change replaces histidine with leucine at codon 260 of the MC1R protein (p.His260Leu). The histidine residue is highly conserved and there is a moderate physicochemical difference between histidine and leucine. |