Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000667344 | SCV000791777 | likely pathogenic | ALG6-congenital disorder of glycosylation 1C | 2017-05-23 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000667344 | SCV003320608 | pathogenic | ALG6-congenital disorder of glycosylation 1C | 2023-09-12 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ser390Leufs*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). This variant is present in population databases (rs769698652, gnomAD 0.002%). 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: 552130). For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV000667344 | SCV004197333 | likely pathogenic | ALG6-congenital disorder of glycosylation 1C | 2023-05-16 | criteria provided, single submitter | clinical testing |