ClinVar Miner

Submissions for variant NM_005957.5(MTHFR):c.1959G>A (p.Thr653=)

gnomAD frequency: 0.00187  dbSNP: rs45572531
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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) RCV000597025 SCV000703527 benign not specified 2016-12-27 criteria provided, single submitter clinical testing
GeneDx RCV000842646 SCV000984676 likely benign not provided 2018-05-03 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001080571 SCV001002391 benign Homocystinuria due to methylene tetrahydrofolate reductase deficiency 2025-01-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002420569 SCV002722095 likely benign Inborn genetic diseases 2022-10-21 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.
Fulgent Genetics, Fulgent Genetics RCV002497257 SCV002798623 likely benign Homocystinuria due to methylene tetrahydrofolate reductase deficiency; Neural tube defects, folate-sensitive; Schizophrenia; Thrombophilia due to thrombin defect 2021-11-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000842646 SCV004128476 likely benign not provided 2023-09-01 criteria provided, single submitter clinical testing MTHFR: BS2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000842646 SCV004562276 likely benign not provided 2023-11-29 criteria provided, single submitter clinical testing

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