ClinVar Miner

Submissions for variant NM_007254.4(PNKP):c.932G>A (p.Arg311His)

gnomAD frequency: 0.00001  dbSNP: rs372435922
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001064427 SCV001229330 uncertain significance Developmental and epileptic encephalopathy, 12 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 311 of the PNKP protein (p.Arg311His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals affected with PNKP-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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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