Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000670804 | SCV000795703 | likely pathogenic | ALG6-congenital disorder of glycosylation 1C | 2017-11-13 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000670804 | SCV002169525 | pathogenic | ALG6-congenital disorder of glycosylation 1C | 2023-01-01 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with ALG6-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Leu23Argfs*3) in the ALG6 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ALG6 are known to be pathogenic (PMID: 19862844). ClinVar contains an entry for this variant (Variation ID: 555062). For these reasons, this variant has been classified as Pathogenic. |