ClinVar Miner

Submissions for variant NM_005957.5(MTHFR):c.1409A>T (p.Glu470Val)

gnomAD frequency: 0.00183  dbSNP: rs142617551
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001086063 SCV001122284 likely benign Homocystinuria due to methylene tetrahydrofolate reductase deficiency 2019-12-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494906 SCV002803163 likely benign Homocystinuria due to methylene tetrahydrofolate reductase deficiency; Neural tube defects, folate-sensitive; Schizophrenia; Thrombophilia due to thrombin defect 2021-08-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003977821 SCV004787173 likely benign MTHFR-related disorder 2023-06-27 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).

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