ClinVar Miner

Submissions for variant NM_032382.5(COG8):c.1755G>C (p.Glu585Asp)

dbSNP: rs1443367772
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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 RCV001341731 SCV001535617 uncertain significance COG8-congenital disorder of glycosylation 2023-09-13 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with COG8-related conditions. This sequence change replaces glutamic acid, which is acidic and polar, with aspartic acid, which is acidic and polar, at codon 585 of the COG8 protein (p.Glu585Asp). This variant is not present in population databases (gnomAD no frequency). ClinVar contains an entry for this variant (Variation ID: 1038425). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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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