Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002036207 | SCV002315862 | pathogenic | ALG6-congenital disorder of glycosylation 1C | 2023-12-30 | criteria provided, single submitter | clinical testing | This sequence change affects a donor splice site in intron 8 of the ALG6 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in ALG6 are known to be pathogenic (PMID: 19862844). This variant is present in population databases (no rsID available, gnomAD 0.007%). Disruption of this splice site has been observed in individual(s) with congenital disorder of glycosylation (PMID: 16007612). ClinVar contains an entry for this variant (Variation ID: 1522702). For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV002036207 | SCV004199174 | likely pathogenic | ALG6-congenital disorder of glycosylation 1C | 2023-08-30 | criteria provided, single submitter | clinical testing |