Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001909364 | SCV002187225 | pathogenic | ALG6-congenital disorder of glycosylation 1C | 2024-01-25 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Val169Glufs*15) 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). This variant is present in population databases (no rsID available, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with ALG6-related conditions. For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV001909364 | SCV004195330 | likely pathogenic | ALG6-congenital disorder of glycosylation 1C | 2021-12-15 | criteria provided, single submitter | clinical testing |