ClinVar Miner

Submissions for variant NM_000245.4(MET):c.4117G>C (p.Asp1373His)

gnomAD frequency: 0.00003  dbSNP: rs398123570
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000079495 SCV000111377 uncertain significance not provided 2015-03-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001082024 SCV000553307 likely benign Renal cell carcinoma 2024-01-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV000571739 SCV000673737 likely benign Hereditary cancer-predisposing syndrome 2020-10-15 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000079495 SCV005622930 uncertain significance not provided 2024-11-16 criteria provided, single submitter clinical testing The MET c.4171G>C (p.Asp1391His) variant (also known as (p.Asp1373His) in a different isoform) variant has not been reported in the published literature in the germline state of an individual affected with a MET-related disease. The frequency of this variant in the general population, 0.00088 (31/35372 chromosomes in Latino/Admixed American subpopulation (Genome Aggregation Database, http://gnomad.broadinstitute.org)), is higher than would generally be expected for pathogenic variants in this gene. Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded conflicting predictions that this variant is benign or damaging. Based on the available information, we are unable to determine the clinical significance of this variant.

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