ClinVar Miner

Submissions for variant NM_000245.4(MET):c.3794A>T (p.Asp1265Val)

dbSNP: rs2117067679
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002026652 SCV002314217 uncertain significance Renal cell carcinoma 2021-08-16 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with MET-related conditions. This sequence change replaces aspartic acid with valine at codon 1283 of the MET protein (p.Asp1283Val). The aspartic acid residue is highly conserved and there is a large physicochemical difference between aspartic acid and valine. This variant is not present in population databases (ExAC no frequency). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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 RCV004945891 SCV005447518 uncertain significance Hereditary cancer-predisposing syndrome 2024-10-14 criteria provided, single submitter clinical testing The p.D1283V variant (also known as c.3848A>T), located in coding exon 18 of the MET gene, results from an A to T substitution at nucleotide position 3848. The aspartic acid at codon 1283 is replaced by valine, an amino acid with highly dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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