Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000666285 | SCV000790551 | uncertain significance | ALG6-congenital disorder of glycosylation 1C | 2017-03-29 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000666285 | SCV002225376 | uncertain significance | ALG6-congenital disorder of glycosylation 1C | 2023-10-03 | criteria provided, single submitter | clinical testing | This sequence change disrupts the translational stop signal of the ALG6 mRNA. It is expected to extend the length of the ALG6 protein by 9 additional amino acid residues. This variant is present in population databases (rs759636698, gnomAD 0.01%). 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: 551272). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
Fulgent Genetics, |
RCV000666285 | SCV002783486 | uncertain significance | ALG6-congenital disorder of glycosylation 1C | 2022-04-02 | criteria provided, single submitter | clinical testing |