ClinVar Miner

Submissions for variant NM_181523.3(PIK3R1):c.202G>A (p.Asp68Asn)

dbSNP: rs755043940
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000545810 SCV000636881 uncertain significance SHORT syndrome; Agammaglobulinemia 7, autosomal recessive; Immunodeficiency 36 2017-06-21 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with PIK3R1-related disease. This variant is present in population databases (rs755043940, ExAC 0.009%). This sequence change replaces aspartic acid with asparagine at codon 68 of the PIK3R1 protein (p.Asp68Asn). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and asparagine.

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