ClinVar Miner

Submissions for variant NM_018714.3(COG1):c.828G>T (p.Leu276Phe)

gnomAD frequency: 0.00001  dbSNP: rs769317853
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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 RCV001878067 SCV002165911 uncertain significance COG1 congenital disorder of glycosylation 2022-07-19 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 276 of the COG1 protein (p.Leu276Phe). This variant is present in population databases (rs769317853, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with COG1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1388838). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.
Daryl Scott Lab, Baylor College of Medicine RCV001878067 SCV005871345 uncertain significance COG1 congenital disorder of glycosylation 2024-01-01 criteria provided, single submitter clinical testing PM2

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