ClinVar Miner

Submissions for variant NM_005957.5(MTHFR):c.762C>T (p.Pro254=)

gnomAD frequency: 0.00016  dbSNP: rs200789362
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000862996 SCV001003581 likely benign Homocystinuria due to methylene tetrahydrofolate reductase deficiency 2023-12-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003908185 SCV004736410 likely benign MTHFR-related condition 2019-04-01 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. RCV000862996 SCV001463164 likely benign Homocystinuria due to methylene tetrahydrofolate reductase deficiency 2020-01-06 no assertion criteria provided clinical testing

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