ClinVar Miner

Submissions for variant NM_006348.5(COG5):c.556A>G (p.Ile186Val)

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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 RCV003610740 SCV004508729 uncertain significance COG5-congenital disorder of glycosylation 2024-01-25 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 217 of the COG5 protein (p.Ile217Val). This variant is present in population databases (rs764180413, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with COG5-related conditions. 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.
3billion, Medical Genetics RCV003610740 SCV005328863 likely benign COG5-congenital disorder of glycosylation 2024-09-20 criteria provided, single submitter clinical testing The homozygous variant was found in patients diagnosed with another variant in a different gene, with no symptoms related to the gene containing the homozygous variant.

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