ClinVar Miner

Submissions for variant NM_181523.3(PIK3R1):c.949G>A (p.Val317Ile)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003782980 SCV004603264 uncertain significance SHORT syndrome; Agammaglobulinemia 7, autosomal recessive; Immunodeficiency 36 2024-01-04 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 317 of the PIK3R1 protein (p.Val317Ile). This variant is present in population databases (rs766076215, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with PIK3R1-related conditions. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt PIK3R1 protein function with a negative predictive value of 80%. 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.

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