ClinVar Miner

Submissions for variant NM_005956.4(MTHFD1):c.1958G>A (p.Arg653Gln)

gnomAD frequency: 0.38175  dbSNP: rs2236225
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000455528 SCV000539720 benign not specified 2016-03-29 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency, variant associated with elevated BMI, temporomandibular disorder, neural tube defects, and decreased risk for congenital heart defects. Overall, not convincing.
Labcorp Genetics (formerly Invitae), Labcorp RCV001513968 SCV001721685 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001513968 SCV001829988 benign not provided 2021-06-09 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24977710, 23685927, 12384833, 25525159, 16123074, 24368157, 18767138, 16552426, 21615938)
Genome-Nilou Lab RCV001775541 SCV002014268 benign Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia 2021-09-05 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000455528 SCV002050710 likely benign not specified 2021-12-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001513968 SCV005219425 likely benign not provided criteria provided, single submitter not provided
OMIM RCV000014603 SCV000034857 risk factor Neural tube defects, folate-sensitive, susceptibility to 2008-03-01 no assertion criteria provided literature only

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