Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000647913 | SCV000769719 | uncertain significance | ALG9 congenital disorder of glycosylation | 2022-10-12 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 538564). 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. This variant has not been reported in the literature in individuals affected with ALG9-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.04%). This sequence change affects codon 43 of the ALG9 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the ALG9 protein. |