ClinVar Miner

Submissions for variant NM_007254.4(PNKP):c.313C>T (p.Arg105Cys)

gnomAD frequency: 0.00001  dbSNP: rs1016887861
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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 RCV000794475 SCV000933887 uncertain significance Developmental and epileptic encephalopathy, 12 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 105 of the PNKP protein (p.Arg105Cys). The arginine residue is moderately conserved and there is a large physicochemical difference between arginine and cysteine. This variant is not present in population databases (ExAC no frequency). 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 tolerated. 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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