ClinVar Miner

Submissions for variant NM_018714.3(COG1):c.2665dup (p.Arg889fs)

dbSNP: rs747606976
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000990056 SCV001140825 pathogenic COG1 congenital disorder of glycosylation 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV000990056 SCV002303270 likely pathogenic COG1 congenital disorder of glycosylation 2022-08-06 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. ClinVar contains an entry for this variant (Variation ID: 803463). This variant is also known as c.2659_2660insC. This premature translational stop signal has been observed in individual(s) with congenital disorder of glycosylation type 2G (CDG2G) (PMID: 16537452, 33960418). This variant is present in population databases (rs747606976, gnomAD 0.01%). This sequence change creates a premature translational stop signal (p.Arg889Profs*12) in the COG1 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in COG1 cause disease.
AiLife Diagnostics, AiLife Diagnostics RCV002223257 SCV002501341 likely pathogenic not provided 2021-04-13 criteria provided, single submitter clinical testing
GeneDx RCV002223257 SCV004025664 pathogenic not provided 2023-02-13 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Frameshift 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: 33960418, 16537452)
OMIM RCV000990056 SCV000024004 pathogenic COG1 congenital disorder of glycosylation 2006-03-07 no assertion criteria provided literature only

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