ClinVar Miner

Submissions for variant NM_005787.6(ALG3):c.364C>T (p.Arg122Cys)

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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 RCV003058277 SCV003439774 uncertain significance ALG3-congenital disorder of glycosylation 2022-04-19 criteria provided, single submitter clinical testing This variant is present in population databases (rs763104840, gnomAD 0.003%). 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: "Probably Damaging"; Align-GVGD: "Class C15"). This variant has not been reported in the literature in individuals affected with ALG3-related conditions. This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 122 of the ALG3 protein (p.Arg122Cys).

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