Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001058033 | SCV001222569 | uncertain significance | Renal cell carcinoma | 2024-01-27 | criteria provided, single submitter | clinical testing | This variant, c.1848_1849delinsTT, is a complex sequence change that results in the deletion of 2 and insertion of 2 amino acid(s) in the MET protein (p.Glu616_Ser617delinsAspCys). Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. 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: 853254). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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. |
Ambry Genetics | RCV002409470 | SCV002715846 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-07-29 | criteria provided, single submitter | clinical testing | The c.1848_1849delGAinsTT variant (also known as p.E616_S617delinsDC), located in coding exon 5 of the MET gene, results from an in-frame deletion of GA and insertion of TT at nucleotide positions 1848 to 1849. This results in the substitution of glutamic acid and serine residues for aspartic acid and cysteine residues at codons 616 and 617. This amino acid region is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Based on the available evidence, the clinical significance of this variant remains unclear. |
Gene |
RCV004768832 | SCV005376903 | uncertain significance | not provided | 2023-10-19 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |