ClinVar Miner

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

gnomAD frequency: 0.03996  dbSNP: rs2274976
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Total submissions: 10
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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
Invitae 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
PreventionGenetics, part of Exact Sciences RCV003965255 SCV004791721 likely benign MTHFR-related disorder 2020-07-27 criteria provided, single submitter 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).
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

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