ClinVar Miner

Submissions for variant NM_005956.4(MTHFD1):c.1958G>A (p.Arg653Gln) (rs2236225)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare 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.
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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