ClinVar Miner

Submissions for variant NM_007357.3(COG2):c.436dup (p.Ile146fs)

dbSNP: rs1031719032
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000689452 SCV000817103 pathogenic Congenital disorder of glycosylation, type IIq 2017-06-08 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in COG2 are known to be pathogenic (PMID: 24784932). This variant has not been reported in the literature in individuals with a COG2-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ile146Asnfs*8) in the COG2 gene. It is expected to result in an absent or disrupted protein product.

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