ClinVar Miner

Submissions for variant NM_015386.3(COG4):c.1840G>T (p.Glu614Ter)

gnomAD frequency: 0.00006  dbSNP: rs1048764460
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000782124 SCV000854633 pathogenic Delayed gross motor development 2018-07-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002499389 SCV002809526 pathogenic COG4-congenital disorder of glycosylation; Microcephalic osteodysplastic dysplasia, Saul-Wilson type 2022-03-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003609168 SCV004512843 pathogenic COG4-congenital disorder of glycosylation 2023-11-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu614*) in the COG4 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in COG4 are known to be pathogenic (PMID: 21185756). This variant is present in population databases (no rsID available, gnomAD 0.007%). This premature translational stop signal has been observed in individual(s) with congenital disorder of glycosylation (PMID: 32064623). ClinVar contains an entry for this variant (Variation ID: 599648). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV000760680 SCV000890572 pathogenic not provided 2020-09-29 flagged submission clinical testing The E614X variant in the COG4 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The E614X variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). We interpret E614X as a pathogenic variant.

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