ClinVar Miner

Submissions for variant NM_005787.6(ALG3):c.799C>A (p.Gln267Lys)

dbSNP: rs528154210
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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 RCV000535489 SCV000638216 uncertain significance ALG3-congenital disorder of glycosylation 2018-01-13 criteria provided, single submitter clinical testing This sequence change replaces glutamine with lysine at codon 267 of the ALG3 protein (p.Gln267Lys). The glutamine residue is moderately conserved and there is a small physicochemical difference between glutamine and lysine. In summary, this variant is a rare missense change with uncertain impact on protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. 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 do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant is present in population databases (rs528154210, ExAC 0.07%) but has not been reported in the literature in individuals with a ALG3-related disease.

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