ClinVar Miner

Submissions for variant NM_020751.3(COG6):c.252del (p.Ala85fs)

dbSNP: rs2137942150
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001939452 SCV002231298 pathogenic COG6-ongenital disorder of glycosylation; Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome 2022-06-05 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1454276). This variant has not been reported in the literature in individuals affected with COG6-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ala85Profs*7) 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).

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