ClinVar Miner

Submissions for variant NM_005957.5(MTHFR):c.1626T>C (p.Asn542=)

gnomAD frequency: 0.00005  dbSNP: rs190046545
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000865856 SCV001006882 benign Homocystinuria due to methylene tetrahydrofolate reductase deficiency 2024-01-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002399891 SCV002706877 likely benign Inborn genetic diseases 2022-07-25 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Natera, Inc. RCV000865856 SCV002094622 likely benign Homocystinuria due to methylene tetrahydrofolate reductase deficiency 2020-03-04 no assertion criteria provided clinical testing

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