Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001388977 | SCV001590172 | pathogenic | SHORT syndrome; Agammaglobulinemia 7, autosomal recessive; Immunodeficiency 36 | 2022-02-24 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 48646). This premature translational stop signal has been observed in individual(s) with agammaglobulinemia and absent B cells (PMID: 22351933). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp298*) in the PIK3R1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PIK3R1 are known to be pathogenic (PMID: 22351933, 25133428). |
OMIM | RCV000041966 | SCV000065669 | pathogenic | Agammaglobulinemia 7, autosomal recessive | 2014-09-02 | no assertion criteria provided | literature only |