Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000485163 | SCV000571646 | likely pathogenic | not provided | 2016-09-22 | criteria provided, single submitter | clinical testing | The c.634dupT variant in the ALG6 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.634dupT variant causes a frameshift starting with codon Cysteine 212, changes this amino acid to a Leucine residue, and creates a premature Stop codon at position 9 of the new reading frame, denoted p.Cys212LeufsX9. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.634dupT variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.634dupT as a likely pathogenic variant. |
Invitae | RCV001834567 | SCV002246440 | pathogenic | ALG6-congenital disorder of glycosylation 1C | 2023-11-09 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Cys212Leufs*9) 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 (no rsID available, gnomAD 0.0009%). 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: 422234). For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV001834567 | SCV004197155 | likely pathogenic | ALG6-congenital disorder of glycosylation 1C | 2023-08-21 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001834567 | SCV002092717 | likely pathogenic | ALG6-congenital disorder of glycosylation 1C | 2020-12-16 | no assertion criteria provided | clinical testing |