ClinVar Miner

Submissions for variant NM_000245.4(MET):c.2479C>T (p.Leu827Phe)

dbSNP: rs2116955879
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001998690 SCV002275851 uncertain significance Renal cell carcinoma 2020-11-11 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). 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. 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 tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with MET-related conditions. This sequence change replaces leucine with phenylalanine at codon 845 of the MET protein (p.Leu845Phe). The leucine residue is weakly conserved and there is a small physicochemical difference between leucine and phenylalanine.

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