ClinVar Miner

Submissions for variant NM_012431.3(SEMA3E):c.2027A>G (p.Glu676Gly)

dbSNP: rs775000046
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001352581 SCV001547142 uncertain significance CHARGE association 2020-02-27 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 SEMA3E-related conditions. This variant is present in population databases (rs775000046, ExAC 0.002%). This sequence change replaces glutamic acid with glycine at codon 676 of the SEMA3E protein (p.Glu676Gly). The glutamic acid residue is moderately conserved and there is a moderate physicochemical difference between glutamic acid and glycine.

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