Total submissions: 5
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. |
Ai |
RCV002223257 | SCV002501341 | likely pathogenic | not provided | 2021-04-13 | criteria provided, single submitter | clinical testing | |
Gene |
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 |