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: 6
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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.
Invitae 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
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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