Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV003461553 | SCV004197266 | likely pathogenic | ALG6-congenital disorder of glycosylation 1C | 2023-06-26 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV003461553 | SCV004412409 | pathogenic | ALG6-congenital disorder of glycosylation 1C | 2023-02-14 | 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. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr38*) 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). |