Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000803719 | SCV000943602 | pathogenic | SHORT syndrome; Agammaglobulinemia 7, autosomal recessive; Immunodeficiency 36 | 2020-01-24 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in PIK3R1 are known to be pathogenic (PMID: 22351933, 25133428). This variant has not been reported in the literature in individuals with PIK3R1-related conditions. ClinVar contains an entry for this variant (Variation ID: 648899). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Met322Argfs*22) in the PIK3R1 gene. It is expected to result in an absent or disrupted protein product. |