ClinVar Miner

Submissions for variant NM_000245.4(MET):c.341A>T (p.Asp114Val)

gnomAD frequency: 0.00004  dbSNP: rs773659883
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001293431 SCV000623435 likely benign Renal cell carcinoma 2024-01-27 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000540846 SCV001323159 uncertain significance Papillary renal cell carcinoma type 1 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Ambry Genetics RCV002456035 SCV002617909 likely benign Hereditary cancer-predisposing syndrome 2023-10-27 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 RCV003151783 SCV003840410 uncertain significance not provided 2023-09-14 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences RCV003409759 SCV004107100 uncertain significance MET-related disorder 2023-02-01 criteria provided, single submitter clinical testing The MET c.341A>T variant is predicted to result in the amino acid substitution p.Asp114Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 4 of ~281,000 alleles in gnomAD (http://gnomad.broadinstitute.org/variant/7-116339479-A-T) and is interpreted as uncertain significance in ClinVar (https://preview.ncbi.nlm.nih.gov/clinvar/variation/454240/). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Baylor Genetics RCV003459165 SCV004192490 uncertain significance Autosomal recessive nonsyndromic hearing loss 97 2023-10-02 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.