Submissions for variant NM_005957.5(MTHFR):c.1781G>A (p.Arg594Gln)

gnomAD frequency: 0.03996  dbSNP: rs2274976

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000174348	SCV000225634	other	not provided	2017-01-13	criteria provided, single submitter	clinical testing
GeneDx	RCV000433699	SCV000519510	benign	not specified	2016-04-25	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000433699	SCV000539721	benign	not specified	2016-03-29	criteria provided, single submitter	clinical testing	Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency in ESP (all): 528/13006=4.05%
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000174348	SCV000604290	benign	not provided	2023-11-01	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001516074	SCV001724288	benign	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001516074	SCV001737365	benign	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	2021-06-10	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000174348	SCV005284369	benign	not provided		criteria provided, single submitter	not provided
Natera, Inc.	RCV001516074	SCV001455748	benign	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	2020-09-16	no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000433699	SCV001925583	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000433699	SCV001953557	benign	not specified		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003965255	SCV004791721	likely benign	MTHFR-related disorder	2020-07-27	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).