ClinVar Miner

Submissions for variant NM_005787.6(ALG3):c.53A>G (p.Glu18Gly)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003087608 SCV003473921 uncertain significance ALG3-congenital disorder of glycosylation 2022-03-14 criteria provided, single submitter clinical testing 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glycine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This variant has not been reported in the literature in individuals affected with ALG3-related conditions. This variant is present in population databases (rs760439771, gnomAD 0.008%). This sequence change replaces glutamic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 18 of the ALG3 protein (p.Glu18Gly).
Ambry Genetics RCV003269437 SCV003948168 uncertain significance Inborn genetic diseases 2023-05-15 criteria provided, single submitter clinical testing The c.53A>G (p.E18G) alteration is located in exon 1 (coding exon 1) of the ALG3 gene. This alteration results from a A to G substitution at nucleotide position 53, causing the glutamic acid (E) at amino acid position 18 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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