ClinVar Miner

Submissions for variant NM_000245.4(MET):c.2987T>C (p.Val996Ala)

dbSNP: rs1554398418
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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 RCV002231663 SCV000623424 uncertain significance Renal cell carcinoma 2018-03-16 criteria provided, single submitter clinical testing This sequence change replaces valine with alanine at codon 1014 of the MET protein (p.Val1014Ala). The valine residue is highly conserved and there is a small physicochemical difference between valine and alanine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with MET-related disease. ClinVar contains an entry for this variant (Variation ID: 454230). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.

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