Submissions for variant NM_000245.4(MET):c.959C>T (p.Ala320Val)

gnomAD frequency: 0.00045  dbSNP: rs35776110

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001420975	SCV000166436	likely benign	Renal cell carcinoma	2024-01-30	criteria provided, single submitter	clinical testing
Vantari Genetics	RCV000210806	SCV000267043	benign	Hereditary cancer-predisposing syndrome	2015-10-23	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000123134	SCV000466432	likely benign	Papillary renal cell carcinoma type 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	RCV000210806	SCV000673700	likely benign	Hereditary cancer-predisposing syndrome	2018-10-31	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.
Mendelics	RCV001420975	SCV000838242	benign	Renal cell carcinoma	2023-08-22	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000210806	SCV002532190	likely benign	Hereditary cancer-predisposing syndrome	2020-12-06	criteria provided, single submitter	curation
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille	RCV001252073	SCV001427821	likely benign	Intellectual disability	2019-01-01	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003915226	SCV004731117	likely benign	MET-related disorder	2022-07-13	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).