Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000079480 | SCV000111360 | uncertain significance | not provided | 2013-10-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001312208 | SCV000166411 | uncertain significance | Renal cell carcinoma | 2024-01-29 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 359 of the MET protein (p.Arg359Gln). This variant is present in population databases (rs201274041, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with MET-related conditions. ClinVar contains an entry for this variant (Variation ID: 93564). 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 MET protein function with a negative predictive value of 80%. 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. |
Illumina Laboratory Services, |
RCV000123109 | SCV000466435 | likely benign | Papillary renal cell carcinoma type 1 | 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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
Ambry Genetics | RCV000567262 | SCV000673699 | likely benign | Hereditary cancer-predisposing syndrome | 2020-05-06 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: 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. |
Mendelics | RCV000123109 | SCV000838245 | uncertain significance | Papillary renal cell carcinoma type 1 | 2018-07-02 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000079480 | SCV001768625 | uncertain significance | not provided | 2023-06-07 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Observed in individuals with thyroid cancer and breast cancer (Penkert et al., 2018; Johansson et al., 2021; Guindalini et al., 2022); Published functional studies suggest this variant may increase MET expression but does not appear to impact cell migration and invasion (Johansson et al., 2021); This variant is associated with the following publications: (PMID: 26718692, 28192086, 29049316, Rastegar2021[abstract], 34389035, 23334666, 26700204, 28873162, 28619094, 30086788, 35264596) |
Institute for Clinical Genetics, |
RCV000079480 | SCV002011114 | uncertain significance | not provided | 2021-11-03 | criteria provided, single submitter | clinical testing | |
Center for Genomic Medicine, |
RCV002267846 | SCV002550779 | uncertain significance | not specified | 2024-02-06 | criteria provided, single submitter | clinical testing |