ClinVar Miner

Submissions for variant NM_005921.2(MAP3K1):c.1558C>G (p.Gln520Glu)

dbSNP: rs1579768504
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000791873 SCV000931140 uncertain significance 46,XY sex reversal 6 2018-10-06 criteria provided, single submitter clinical testing 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. 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 C0"). This variant has not been reported in the literature in individuals with MAP3K1-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamine with glutamic acid at codon 520 of the MAP3K1 protein (p.Gln520Glu). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and glutamic acid.

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