ClinVar Miner

Submissions for variant NM_000254.3(MTR):c.2249T>C (p.Phe750Ser)

dbSNP: rs1664588529
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001542450 SCV001761157 uncertain significance Methylcobalamin deficiency type cblG 2020-07-01 criteria provided, single submitter clinical testing The c.2249T>C,p.Phe750Ser missense variant identified in the MTR gene has not beenreported in the literature. This variant is not reported in gnomAD database, indicating this is a rare allele. This substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the proteinstructure/function. This substitutionis a part of B12-binding N-terminal domain, and in methionine synthase the cobalamin cofactor is sandwiched between the B12-binding domain and an ~90 residues N-terminal domain forming a helical bundle comprising two pairs of antiparallel helices [PMID: 27153729]. Based on the available evidence, the variant c.2249T>C,p.Phe750Ser in the MTRgene is classified as a Variant of Uncertain Significance.

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