ClinVar Miner

Submissions for variant NM_000245.4(MET):c.2701C>G (p.Leu901Val)

dbSNP: rs1384134548
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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 RCV001206819 SCV001378148 uncertain significance Renal cell carcinoma 2019-06-30 criteria provided, single submitter clinical testing 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with MET-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with valine at codon 919 of the MET protein (p.Leu919Val). The leucine residue is moderately conserved and there is a small physicochemical difference between leucine and valine.
Ambry Genetics RCV003163566 SCV003869893 uncertain significance Hereditary cancer-predisposing syndrome 2023-02-24 criteria provided, single submitter clinical testing The p.L919V variant (also known as c.2755C>G), located in coding exon 11 of the MET gene, results from a C to G substitution at nucleotide position 2755. The leucine at codon 919 is replaced by valine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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