ClinVar Miner

Submissions for variant NM_013339.4(ALG6):c.1496G>A (p.Ser499Asn)

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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 RCV002988536 SCV003290225 uncertain significance ALG6-congenital disorder of glycosylation 1C 2022-08-10 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 499 of the ALG6 protein (p.Ser499Asn). This variant is present in population databases (rs201811893, gnomAD 0.05%). 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The asparagine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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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