Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000806272 | SCV000946261 | 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.Phe49*) 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 (rs756566938, gnomAD 0.009%). 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: 651010). For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV000806272 | SCV004199777 | likely pathogenic | ALG6-congenital disorder of glycosylation 1C | 2022-02-24 | criteria provided, single submitter | clinical testing |