ClinVar Miner

Submissions for variant NM_007254.4(PNKP):c.602G>A (p.Arg201His)

gnomAD frequency: 0.00001  dbSNP: rs150253619
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000179470 SCV000231724 uncertain significance not provided 2015-04-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001852233 SCV002302322 uncertain significance Developmental and epileptic encephalopathy, 12 2021-12-03 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 201 of the PNKP protein (p.Arg201His). This variant is present in population databases (rs150253619, gnomAD 0.007%). 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: 198199). 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: "Possibly 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.
Ambry Genetics RCV004020145 SCV005008270 uncertain significance Inborn genetic diseases 2024-01-30 criteria provided, single submitter clinical testing The c.602G>A (p.R201H) alteration is located in exon 6 (coding exon 5) of the PNKP gene. This alteration results from a G to A substitution at nucleotide position 602, causing the arginine (R) at amino acid position 201 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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