ClinVar Miner

Submissions for variant NM_181523.3(PIK3R1):c.747G>C (p.Lys249Asn)

gnomAD frequency: 0.00001  dbSNP: rs147303522
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001070323 SCV001235545 uncertain significance SHORT syndrome; Agammaglobulinemia 7, autosomal recessive; Immunodeficiency 36 2023-04-22 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). 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 tolerated. ClinVar contains an entry for this variant (Variation ID: 863370). This variant has not been reported in the literature in individuals affected with PIK3R1-related conditions. This sequence change replaces lysine, which is basic and polar, with asparagine, which is neutral and polar, at codon 249 of the PIK3R1 protein (p.Lys249Asn).
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002245853 SCV002512712 uncertain significance Agammaglobulinemia 7, autosomal recessive 2022-02-08 criteria provided, single submitter clinical testing ACMG classification criteria: PM2 moderate, BP4 supporting

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