ClinVar Miner

Submissions for variant NM_005957.5(MTHFR):c.708C>T (p.Phe236=)

gnomAD frequency: 0.00134  dbSNP: rs34279942
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000289836 SCV000340800 uncertain significance not provided 2017-05-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001082332 SCV001002664 benign Homocystinuria due to methylene tetrahydrofolate reductase deficiency 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002365318 SCV002664049 likely benign Inborn genetic diseases 2022-03-03 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. RCV001082332 SCV001463166 likely benign Homocystinuria due to methylene tetrahydrofolate reductase deficiency 2020-06-07 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000289836 SCV001927902 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000289836 SCV001965409 likely benign not provided no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003957475 SCV004767944 likely benign MTHFR-related disorder 2019-07-14 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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