ClinVar Miner

Submissions for variant NM_000245.4(MET):c.3781A>T (p.Thr1261Ser)

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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 RCV002647628 SCV003514875 uncertain significance Renal cell carcinoma 2022-03-28 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with MET-related conditions. 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 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 is not present in population databases (gnomAD no frequency). This sequence change replaces threonine, which is neutral and polar, with serine, which is neutral and polar, at codon 1279 of the MET protein (p.Thr1279Ser).
Baylor Genetics RCV003459765 SCV004192579 uncertain significance Autosomal recessive nonsyndromic hearing loss 97 2023-05-26 criteria provided, single submitter clinical testing

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