ClinVar Miner

Submissions for variant NM_024105.4(ALG12):c.605G>A (p.Arg202Gln)

gnomAD frequency: 0.00003  dbSNP: rs746493927
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001233252 SCV001405836 uncertain significance ALG12-congenital disorder of glycosylation 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 202 of the ALG12 protein (p.Arg202Gln). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs746493927, ExAC 0.01%). This variant has not been reported in the literature in individuals affected with ALG12-related conditions. 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: "Tolerated"; PolyPhen-2: "Possibly 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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