ClinVar Miner

Submissions for variant NM_018714.3(COG1):c.2791G>T (p.Glu931Ter) (rs774479733)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000778511 SCV000914785 uncertain significance COG1 congenital disorder of glycosylation 2017-04-28 criteria provided, single submitter clinical testing The COG1 c.2791G>T (p.Glu931Ter) variant is a stop-gained variant that is predicted to result in a premature termination of the protein. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. Based on the variant frequency, disease prevalence, disease penetrance, and inheritance mode, this variant could not be ruled out of causing disease. Due to the potential impact of stop-gained variants and the lack of clarifying evidence, this variant is classified as a variant of unknown significance but suspicious for pathogenicity for congenital disorders of glycosylation. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

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