ClinVar Miner

Submissions for variant NM_013339.4(ALG6):c.857T>G (p.Leu286Arg)

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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 RCV003058812 SCV003449667 uncertain significance ALG6-congenital disorder of glycosylation 1C 2022-08-22 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 286 of the ALG6 protein (p.Leu286Arg). This variant is present in population databases (rs768557367, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with ALG6-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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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