ClinVar Miner

Submissions for variant NM_000245.4(MET):c.2110A>G (p.Asn704Asp)

gnomAD frequency: 0.00010  dbSNP: rs373030463
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000206446 SCV000259336 likely benign Renal cell carcinoma 2024-01-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV000572349 SCV000673757 likely benign Hereditary cancer-predisposing syndrome 2019-04-22 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.
GeneDx RCV001577602 SCV001805006 uncertain significance not provided 2024-02-12 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; In silico analysis is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown
PreventionGenetics, part of Exact Sciences RCV003422109 SCV004116857 uncertain significance MET-related disorder 2023-09-03 criteria provided, single submitter clinical testing The MET c.2110A>G variant is predicted to result in the amino acid substitution p.Asn704Asp. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.029% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/7-116398520-A-G). In ClinVar, this variant has conflicting interpretations ranging from likely benign to uncertain (https://www.ncbi.nlm.nih.gov/clinvar/variation/219460/). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001577602 SCV005622899 uncertain significance not provided 2024-03-19 criteria provided, single submitter clinical testing

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