Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000671421 | SCV000796395 | likely pathogenic | ALG6-congenital disorder of glycosylation 1C | 2017-12-15 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000671421 | SCV003235408 | pathogenic | ALG6-congenital disorder of glycosylation 1C | 2022-10-01 | criteria provided, single submitter | clinical testing | 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. ClinVar contains an entry for this variant (Variation ID: 555579). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Pro379Leufs*4) 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). |
Baylor Genetics | RCV000671421 | SCV004197377 | likely pathogenic | ALG6-congenital disorder of glycosylation 1C | 2023-04-04 | criteria provided, single submitter | clinical testing |