Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001058319 | SCV001222879 | uncertain significance | Renal cell carcinoma | 2023-08-25 | criteria provided, single submitter | clinical testing | This variant is present in population databases (rs779040487, gnomAD 0.009%). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 181 of the MET protein (p.Gly181Arg). 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. 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 expected to disrupt MET protein function. ClinVar contains an entry for this variant (Variation ID: 853501). This variant has not been reported in the literature in individuals affected with MET-related conditions. |
| Baylor Genetics | RCV003467790 | SCV004192524 | uncertain significance | Autosomal recessive nonsyndromic hearing loss 97 | 2023-08-31 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV004031844 | SCV005038039 | likely benign | Hereditary cancer-predisposing syndrome | 2023-11-29 | 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 |
RCV004777953 | SCV005391586 | uncertain significance | not provided | 2024-03-20 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |