ClinVar Miner

Submissions for variant NM_005957.4(MTHFR):c.155G>A (p.Arg52Gln) (rs754980119)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000690846 SCV000818575 pathogenic Homocysteinemia due to MTHFR deficiency 2018-07-10 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 52 of the MTHFR protein (p.Arg52Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs754980119, ExAC 0.008%). This variant has been observed to segregate with methylenetetrahydrofolate reductase deficiency in a family and has been observed in trans with pathogenic MTHFR variants in several individuals affected with this condition (PMID: 7726158, 10923034, 12733064, 25736335, 21778025, 25079578). This variant is also known as c.167G>A in the literature. Experimental studies have shown that this missense change has a discrete effect on protein function (PMID: 27743313). For these reasons, this variant has been classified as Pathogenic.

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