ClinVar Miner

Submissions for variant NM_000245.4(MET):c.289C>G (p.Pro97Ala)

gnomAD frequency: 0.00012  dbSNP: rs199736573
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000723566 SCV000111368 uncertain significance not provided 2012-12-11 criteria provided, single submitter clinical testing
Invitae RCV000531725 SCV000623420 likely benign Renal cell carcinoma 2024-01-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV000565888 SCV000673719 likely benign Hereditary cancer-predisposing syndrome 2020-04-22 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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 RCV000723566 SCV001818330 uncertain significance not provided 2022-05-11 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Identified in healthy individuals undergoing whole genome sequencing (Bodian 2014); This variant is associated with the following publications: (PMID: 24728327)
PreventionGenetics, part of Exact Sciences RCV003407457 SCV004107429 uncertain significance MET-related condition 2023-04-05 criteria provided, single submitter clinical testing The MET c.289C>G variant is predicted to result in the amino acid substitution p.Pro97Ala. This variant has been observed in a healthy, ancestrally diverse cohort (Table S1, Bodian et al. 2014. PubMed ID: 24728327). This variant is reported in 0.050% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/7-116339427-C-G) and has conflicting interpretations of likely benign and uncertain significance in ClinVar (https://preview.ncbi.nlm.nih.gov/clinvar/variation/93571/). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Baylor Genetics RCV003466975 SCV004192505 uncertain significance Autosomal recessive nonsyndromic hearing loss 97 2023-09-13 criteria provided, single submitter clinical testing
ITMI RCV000121343 SCV000085520 not provided not specified 2013-09-19 no assertion provided reference population

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