ClinVar Miner

Submissions for variant NM_020751.3(COG6):c.511C>T (p.Arg171Ter)

gnomAD frequency: 0.00004  dbSNP: rs200177031
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Molecular Medicine, Children’s Hospital of Fudan University RCV000584833 SCV001190574 pathogenic COG6-ongenital disorder of glycosylation 2019-05-10 criteria provided, single submitter clinical testing
Invitae RCV001853951 SCV002205155 pathogenic COG6-ongenital disorder of glycosylation; Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome 2021-10-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg171*) in the COG6 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in COG6 are known to be pathogenic (PMID: 26260076). This variant is present in population databases (rs200177031, ExAC 0.005%). This premature translational stop signal has been observed in individual(s) with clinical features of COG6-CDG (PMID: 26260076). ClinVar contains an entry for this variant (Variation ID: 493007). For these reasons, this variant has been classified as Pathogenic.
CeGaT Center for Human Genetics Tuebingen RCV002065124 SCV002497666 pathogenic not provided 2024-01-01 criteria provided, single submitter clinical testing COG6: PVS1, PM2, PM3
GeneDx RCV002065124 SCV002512923 pathogenic not provided 2022-04-18 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 26260076, 29709711, 32411386, 33394555, 35048409, 31589614, 32905044, 35068072, 34331832, 32730773, 34943782)
OMIM RCV000584833 SCV000692569 pathogenic COG6-ongenital disorder of glycosylation 2018-02-22 no assertion criteria provided literature only

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