Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000803328 | SCV000943192 | uncertain significance | ALG2-congenital disorder of glycosylation; Congenital myasthenic syndrome 14 | 2019-07-04 | criteria provided, single submitter | clinical testing | This sequence change replaces tyrosine with serine at codon 91 of the ALG2 protein (p.Tyr91Ser). The tyrosine residue is highly conserved and there is a large physicochemical difference between tyrosine and serine. 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with ALG2-related disease. While this variant is not present in population databases, the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. |