Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000195706 | SCV000254686 | likely benign | Renal cell carcinoma | 2024-01-21 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000564694 | SCV000673727 | likely benign | Hereditary cancer-predisposing syndrome | 2020-06-25 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Gene |
RCV001566274 | SCV001789770 | uncertain significance | not provided | 2022-08-12 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Observed in an individual with neuroblastoma (Zhang et al., 2015); This variant is associated with the following publications: (PMID: 26580448) |
Genetic Services Laboratory, |
RCV003150976 | SCV003839712 | uncertain significance | not specified | 2022-07-27 | no assertion criteria provided | clinical testing | DNA sequence analysis of the MET gene demonstrated a sequence change, c.3575A>G, in exon 17 that results in an amino acid change, p.His1192Arg. This sequence change does not appear to have been previously described in individuals with MET-related disorders. This sequence change has been described in the gnomAD database with a frequency of 0.11% in the African subpopulation (dbSNP rs372830789). The p.His1192Arg change affects a highly conserved amino acid residue located in a domain of the MET protein that is known to be functional. In-silico pathogenicity prediction tools (SIFT, PolyPhen2, Align GVGD, REVEL) provide contradictory results for the p.His1192Arg substitution. Due to insufficient evidences and the lack of functional studies, the clinical significance of the p.His1192Arg change remains unknown at this time. Heterozygous pathogenic variants in MET are associated with papillary renal cell carcinoma [OMIM# 605074]. |
Prevention |
RCV004745272 | SCV005359829 | likely benign | MET-related disorder | 2024-05-12 | no assertion criteria provided | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |