Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000545810 | SCV000636881 | uncertain significance | SHORT syndrome; Agammaglobulinemia 7, autosomal recessive; Immunodeficiency 36 | 2017-06-21 | 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. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with PIK3R1-related disease. This variant is present in population databases (rs755043940, ExAC 0.009%). This sequence change replaces aspartic acid with asparagine at codon 68 of the PIK3R1 protein (p.Asp68Asn). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and asparagine. |