Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000817581 | SCV000958150 | uncertain significance | ALG9 congenital disorder of glycosylation | 2022-05-24 | criteria provided, single submitter | clinical testing | 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. ClinVar contains an entry for this variant (Variation ID: 660397). This variant has not been reported in the literature in individuals affected with ALG9-related conditions. This variant is present in population databases (rs782023699, gnomAD 0.004%). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 467 of the ALG9 protein (p.Glu467Lys). |