ClinVar Miner

Submissions for variant NM_000245.3(MET):c.3356G>C (p.Gly1119Ala) (rs201037977)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000569927 SCV000673711 likely benign Hereditary cancer-predisposing syndrome 2015-11-13 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,In silico models in agreement (benign)
Biesecker Lab/Human Development Section,National Institutes of Health RCV000034530 SCV000043318 variant of unknown significance not provided 2012-07-13 no assertion criteria provided research Converted during submission to Uncertain significance.
Invitae RCV000697527 SCV000826144 uncertain significance Renal cell carcinoma, papillary, 1 2018-03-26 criteria provided, single submitter clinical testing This sequence change replaces glycine with alanine at codon 1137 of the MET protein (p.Gly1137Ala). The glycine residue is weakly conserved and there is a small physicochemical difference between glycine and alanine. This variant is present in population databases (rs201037977, ExAC 0.009%). This variant has not been reported in the literature in individuals with MET-related disease. ClinVar contains an entry for this variant (Variation ID: 41625). 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. 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.
Mendelics RCV000697527 SCV000838273 uncertain significance Renal cell carcinoma, papillary, 1 2018-07-02 criteria provided, single submitter clinical testing

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