Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001035102 | SCV001198417 | uncertain significance | Renal cell carcinoma | 2019-02-18 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (ExAC no frequency). This variant, c.1958_1960del, results in the deletion of 1 amino acid(s) of the MET protein (p.Ser653del), but otherwise preserves the integrity of the reading frame. This variant has not been reported in the literature in individuals with MET-related conditions. 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. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. |
Ambry Genetics | RCV002416324 | SCV002718210 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-01-14 | criteria provided, single submitter | clinical testing | The c.1958_1960delCCT variant (also known as p.S653del) is located in coding exon 6 of the MET gene. This variant results from an in-frame CCT deletion at nucleotide positions 1958 to 1960. This results in the in-frame deletion of a serine at codon 653. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |