ClinVar Miner

Submissions for variant NM_005957.5(MTHFR):c.1719C>T (p.Thr573=)

gnomAD frequency: 0.00029  dbSNP: rs149585376
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000860942 SCV001001128 likely benign Homocystinuria due to methylene tetrahydrofolate reductase deficiency 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV003169090 SCV003911282 likely benign Inborn genetic diseases 2023-02-23 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.
CeGaT Center for Human Genetics Tuebingen RCV003424380 SCV004128477 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing MTHFR: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003965630 SCV004782124 likely benign MTHFR-related condition 2022-08-29 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. RCV000860942 SCV001459042 uncertain significance Homocystinuria due to methylene tetrahydrofolate reductase deficiency 2020-01-24 no assertion criteria provided clinical testing

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