ClinVar Miner

Submissions for variant NM_005027.4(PIK3R2):c.259_263del (p.Gly87fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003487095 SCV004236078 uncertain significance Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 2023-06-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003487095 SCV004270269 uncertain significance Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 2023-07-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly87Serfs*14) in the PIK3R2 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in PIK3R2 cause disease. This variant is present in population databases (rs778790424, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with PIK3R2-related conditions. 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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