ClinVar Miner

Submissions for variant NM_006348.5(COG5):c.542A>G (p.Tyr181Cys)

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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 RCV003030955 SCV003315037 uncertain significance COG5-congenital disorder of glycosylation 2023-08-04 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 2098450). This missense change has been observed in individual(s) with epileptic and/or developmental encephalopathy (PMID: 31175295). This variant is present in population databases (no rsID available, gnomAD 0.01%). This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 212 of the COG5 protein (p.Tyr212Cys).

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