ClinVar Miner

Submissions for variant NM_005027.4(PIK3R2):c.199C>T (p.Arg67Ter)

dbSNP: rs2147945157
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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 RCV001870568 SCV002129702 uncertain significance Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 2022-08-16 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with PIK3R2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg67*) 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. ClinVar contains an entry for this variant (Variation ID: 1369322). 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site.

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