Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001319912 | SCV001510676 | uncertain significance | SHORT syndrome; Agammaglobulinemia 7, autosomal recessive; Immunodeficiency 36 | 2023-06-03 | 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 1020344). This variant has not been reported in the literature in individuals affected with PIK3R1-related conditions. This variant is present in population databases (rs765266397, gnomAD 0.002%). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 93 of the PIK3R1 protein (p.Arg93Gln). |