ClinVar Miner

Submissions for variant NM_033087.4(ALG2):c.97G>A (p.Val33Met)

dbSNP: rs774607653
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000821617 SCV000962386 uncertain significance ALG2-congenital disorder of glycosylation; Congenital myasthenic syndrome 14 2022-08-19 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 33 of the ALG2 protein (p.Val33Met). This variant is present in population databases (rs774607653, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with ALG2-related conditions. ClinVar contains an entry for this variant (Variation ID: 663688). 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 C0"). 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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