ClinVar Miner

Submissions for variant NM_032382.5(COG8):c.1793G>A (p.Gly598Glu)

gnomAD frequency: 0.00001  dbSNP: rs774046470
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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 RCV001866807 SCV002117766 uncertain significance COG8-congenital disorder of glycosylation 2022-08-22 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1355215). 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 glutamic acid 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 COG8-related conditions. This variant is present in population databases (rs774046470, gnomAD 0.004%). This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 598 of the COG8 protein (p.Gly598Glu). 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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