Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001946923 | SCV002245577 | pathogenic | ALG6-congenital disorder of glycosylation 1C | 2022-11-23 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1456617). 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.Lys143Argfs*17) 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 | RCV001946923 | SCV004197288 | likely pathogenic | ALG6-congenital disorder of glycosylation 1C | 2023-06-16 | criteria provided, single submitter | clinical testing |