Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000666040 | SCV000790273 | likely pathogenic | ALG6-congenital disorder of glycosylation 1C | 2017-03-23 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000666040 | SCV002230875 | pathogenic | ALG6-congenital disorder of glycosylation 1C | 2023-12-21 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ile399Tyrfs*11) 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 0.01%). This variant has not been reported in the literature in individuals affected with ALG6-related conditions. ClinVar contains an entry for this variant (Variation ID: 551075). For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV000666040 | SCV004197355 | likely pathogenic | ALG6-congenital disorder of glycosylation 1C | 2023-04-18 | criteria provided, single submitter | clinical testing |