ClinVar Miner

Submissions for variant NM_001127500.3(MET):c.1076G>A (p.Arg359Gln) (rs201274041)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000079480 SCV000111360 uncertain significance not provided 2013-10-01 criteria provided, single submitter clinical testing
Invitae RCV000123109 SCV000166411 uncertain significance Renal cell carcinoma, papillary, 1 2019-12-30 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 359 of the MET protein (p.Arg359Gln). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases, including one homozygous individual (rs201274041, ExAC 0.04%), and has an allele count higher than expected for a pathogenic variant (PMID: 28166811). This variant has not been reported in the literature in individuals with MET-related disease. ClinVar contains an entry for this variant (Variation ID: 93564). 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: "Tolerated"; PolyPhen-2: "Possibly 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.
Illumina Clinical Services Laboratory,Illumina RCV000123109 SCV000466435 likely benign Renal cell carcinoma, papillary, 1 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Ambry Genetics RCV000567262 SCV000673699 uncertain significance Hereditary cancer-predisposing syndrome 2018-05-24 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
Mendelics RCV000123109 SCV000838245 uncertain significance Renal cell carcinoma, papillary, 1 2018-07-02 criteria provided, single submitter clinical testing

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