ClinVar Miner

Submissions for variant NM_005216.5(DDOST):c.167A>G (p.Glu56Gly)

dbSNP: rs2154534449
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002021996 SCV002263867 uncertain significance Congenital disorder of glycosylation type Ir 2021-09-29 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with DDOST-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamic acid with glycine at codon 73 of the DDOST protein (p.Glu73Gly). The glutamic acid residue is moderately conserved and there is a moderate physicochemical difference between glutamic acid and glycine. 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"). 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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