ClinVar Miner

Submissions for variant NM_007254.4(PNKP):c.1424C>T (p.Ser475Leu)

dbSNP: rs1600414629
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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 RCV000805090 SCV000945034 uncertain significance Developmental and epileptic encephalopathy, 12 2019-02-28 criteria provided, single submitter clinical testing This sequence change replaces serine with leucine at codon 475 of the PNKP protein (p.Ser475Leu). The serine residue is moderately conserved and there is a large physicochemical difference between serine and leucine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with PNKP-related disease. 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: "Benign"; 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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