ClinVar Miner

Submissions for variant NM_018714.3(COG1):c.1428G>A (p.Trp476Ter)

gnomAD frequency: 0.00001  dbSNP: rs1227032564
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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 RCV001202775 SCV001373901 pathogenic COG1 congenital disorder of glycosylation 2019-09-09 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with COG1-related conditions. Loss-of-function variants in COG1 are known to be pathogenic (PMID: 16537452). For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Trp476*) in the COG1 gene. It is expected to result in an absent or disrupted protein product.
Fulgent Genetics, Fulgent Genetics RCV001202775 SCV002792829 likely pathogenic COG1 congenital disorder of glycosylation 2022-03-19 criteria provided, single submitter clinical testing

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