ClinVar Miner

Submissions for variant NM_000245.4(MET):c.3937T>C (p.Tyr1313His)

gnomAD frequency: 0.00001  dbSNP: rs1290917552
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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 RCV001997668 SCV002245285 uncertain significance Renal cell carcinoma 2022-05-21 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with histidine, which is basic and polar, at codon 1331 of the MET protein (p.Tyr1331His). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with MET-related conditions. 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 RCV004945840 SCV005450831 uncertain significance Hereditary cancer-predisposing syndrome 2024-10-18 criteria provided, single submitter clinical testing The p.Y1331H variant (also known as c.3991T>C), located in coding exon 20 of the MET gene, results from a T to C substitution at nucleotide position 3991. The tyrosine at codon 1331 is replaced by histidine, an amino acid with similar 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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