Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001947130 | SCV002132298 | likely benign | Renal cell carcinoma | 2023-11-10 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002334765 | SCV002618686 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-05-01 | criteria provided, single submitter | clinical testing | The p.L12F variant (also known as c.34C>T), located in coding exon 1 of the MET gene, results from a C to T substitution at nucleotide position 34. The leucine at codon 12 is replaced by phenylalanine, an amino acid with highly similar properties. This alteration was identified in 1/1358 non-cancer control individuals and in 0/57 cases, in a study looking at cancer predisposition mutations in patients with cutaneous melanoma and a history of at least two additional non-cutaneous melanoma primary cancers (Pritchard AL et al. PLoS One, 2018 Apr;13:e0194098). This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Gene |
RCV004762209 | SCV005368934 | uncertain significance | not provided | 2023-06-18 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Observed among control individuals, but absent from cases, in a melanoma case-control study (Pritchard et al., 2018); This variant is associated with the following publications: (PMID: 29641532) |