ClinVar Miner

Submissions for variant NM_006348.5(COG5):c.2089C>G (p.Gln697Glu)

dbSNP: rs1031677638
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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 RCV001881779 SCV002151707 uncertain significance COG5-congenital disorder of glycosylation 2020-12-18 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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"). This variant has not been reported in the literature in individuals with COG5-related conditions. This sequence change replaces glutamine with glutamic acid at codon 728 of the COG5 protein (p.Gln728Glu). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and glutamic acid.
Fulgent Genetics, Fulgent Genetics RCV001881779 SCV002783163 uncertain significance COG5-congenital disorder of glycosylation 2022-01-05 criteria provided, single submitter clinical testing

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