ClinVar Miner

Submissions for variant NM_006348.5(COG5):c.1078C>G (p.Leu360Val)

dbSNP: rs762031095
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000519824 SCV000621549 uncertain significance not provided 2021-03-26 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 25741868)
Fulgent Genetics, Fulgent Genetics RCV000764679 SCV000895809 uncertain significance COG5-congenital disorder of glycosylation 2018-10-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000764679 SCV002236112 uncertain significance COG5-congenital disorder of glycosylation 2022-10-17 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 391 of the COG5 protein (p.Leu391Val). This variant is present in population databases (rs762031095, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with COG5-related conditions. ClinVar contains an entry for this variant (Variation ID: 452719). 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: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C15"). 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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