ClinVar Miner

Submissions for variant NM_181523.3(PIK3R1):c.1344del (p.Lys448fs)

dbSNP: rs1289537429
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001328801 SCV001520008 likely pathogenic Immunodeficiency 36 2019-01-14 criteria provided, single submitter clinical testing This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV003770478 SCV004589633 pathogenic SHORT syndrome; Agammaglobulinemia 7, autosomal recessive; Immunodeficiency 36 2023-06-11 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 998150). This sequence change creates a premature translational stop signal (p.Lys448Asnfs*32) 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PIK3R1-related conditions. For these reasons, this variant has been classified as Pathogenic.
Genomic Center, National Cancer Institute RCV001293839 SCV001481770 pathogenic Colorectal cancer no assertion criteria provided case-control

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