ClinVar Miner

Submissions for variant NM_005957.5(MTHFR):c.348C>T (p.Ala116=)

gnomAD frequency: 0.00217  dbSNP: rs144921426
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000295603 SCV000332728 uncertain significance not provided 2015-07-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001080742 SCV001001868 benign Homocystinuria due to methylene tetrahydrofolate reductase deficiency 2024-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV004021088 SCV005024371 likely benign Inborn genetic diseases 2023-11-02 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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. RCV001080742 SCV001463169 likely benign Homocystinuria due to methylene tetrahydrofolate reductase deficiency 2020-06-07 no assertion criteria provided clinical testing

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