Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000673084 | SCV000798252 | likely pathogenic | ALG6-congenital disorder of glycosylation 1C | 2018-03-02 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000673084 | SCV000946583 | pathogenic | ALG6-congenital disorder of glycosylation 1C | 2023-11-03 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Tyr57*) 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 (rs780528545, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with a congenital disorder of glycosylation (PMID: 15771971). ClinVar contains an entry for this variant (Variation ID: 557002). For these reasons, this variant has been classified as Pathogenic. |
Gene |
RCV002462010 | SCV002756481 | likely pathogenic | not provided | 2022-05-19 | criteria provided, single submitter | clinical testing | Observed with a pathogenic variant in unknown phase in three individuals within the same family with a congenital disorder of glycosylation (Vuillaumier-Barrot et al., 2005); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25525159, 19862844, 15771971) |
Baylor Genetics | RCV000673084 | SCV004197433 | likely pathogenic | ALG6-congenital disorder of glycosylation 1C | 2022-12-27 | criteria provided, single submitter | clinical testing |