ClinVar Miner

Submissions for variant NM_181523.3(PIK3R1):c.563G>A (p.Arg188His)

gnomAD frequency: 0.00019  dbSNP: rs148059720
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000762146 SCV000892408 uncertain significance not provided 2022-04-01 criteria provided, single submitter clinical testing
Invitae RCV001070690 SCV001235957 uncertain significance SHORT syndrome; Agammaglobulinemia 7, autosomal recessive; Immunodeficiency 36 2024-01-25 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 188 of the PIK3R1 protein (p.Arg188His). This variant is present in population databases (rs148059720, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with PIK3R1-related conditions. ClinVar contains an entry for this variant (Variation ID: 624051). 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. 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.
Mayo Clinic Laboratories, Mayo Clinic RCV000762146 SCV001713324 uncertain significance not provided 2020-06-24 criteria provided, single submitter clinical testing

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