ClinVar Miner

Submissions for variant NM_005957.4(MTHFR):c.1408_1409delinsCT (p.Glu470Leu) (rs886043349)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000385555 SCV000339597 uncertain significance not provided 2018-07-25 criteria provided, single submitter clinical testing
Invitae RCV000811402 SCV000951667 uncertain significance Homocysteinemia due to MTHFR deficiency 2018-07-18 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with leucine at codon 470 of the MTHFR protein (p.Glu470Leu). The glutamic acid residue is moderately conserved and there is a moderate physicochemical difference between glutamic acid and leucine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with MTHFR-related disease. ClinVar contains an entry for this variant (Variation ID: 286247). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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