ClinVar Miner

Submissions for variant NM_005027.4(PIK3R2):c.1003A>G (p.Ile335Val)

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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 RCV002966896 SCV003282029 uncertain significance Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 2022-05-27 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. 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 expected to disrupt PIK3R2 protein function. This variant has not been reported in the literature in individuals affected with PIK3R2-related conditions. This variant is present in population databases (rs142808734, gnomAD 0.03%). This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 335 of the PIK3R2 protein (p.Ile335Val).
Ambry Genetics RCV003170738 SCV003874522 uncertain significance Inborn genetic diseases 2023-02-13 criteria provided, single submitter clinical testing The c.1003A>G (p.I335V) alteration is located in exon 8 (coding exon 7) of the PIK3R2 gene. This alteration results from a A to G substitution at nucleotide position 1003, causing the isoleucine (I) at amino acid position 335 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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