ClinVar Miner

Submissions for variant NM_005957.5(MTHFR):c.513C>A (p.Gly171=)

gnomAD frequency: 0.00019  dbSNP: rs150963282
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000861739 SCV001002132 likely benign Homocystinuria due to methylene tetrahydrofolate reductase deficiency 2024-01-24 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003918328 SCV004735218 likely benign MTHFR-related condition 2022-05-02 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. RCV000861739 SCV001465850 likely benign Homocystinuria due to methylene tetrahydrofolate reductase deficiency 2020-10-06 no assertion criteria provided clinical testing

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