ClinVar Miner

Submissions for variant NM_007254.4(PNKP):c.109C>T (p.Pro37Ser)

gnomAD frequency: 0.00009  dbSNP: rs536541839
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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 RCV001053330 SCV001217588 uncertain significance Developmental and epileptic encephalopathy, 12 2022-07-26 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 37 of the PNKP protein (p.Pro37Ser). This variant is present in population databases (rs536541839, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with PNKP-related conditions. ClinVar contains an entry for this variant (Variation ID: 849385). 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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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