ClinVar Miner

Submissions for variant NM_005027.4(PIK3R2):c.145C>T (p.Arg49Cys)

gnomAD frequency: 0.00004  dbSNP: rs1022260890
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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 RCV001055328 SCV001219715 uncertain significance Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 2021-05-31 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with PIK3R2-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This sequence change replaces arginine with cysteine at codon 49 of the PIK3R2 protein (p.Arg49Cys). The arginine residue is moderately conserved and there is a large physicochemical difference between arginine and cysteine.

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