ClinVar Miner

Submissions for variant NM_007254.4(PNKP):c.356C>A (p.Pro119Gln)

dbSNP: rs1477930328
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV001823601 SCV002073167 uncertain significance Microcephaly, seizures, and developmental delay criteria provided, single submitter clinical testing The missense variant p.P119Q in PNKP (NM_007254.4) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.P119Q variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. There is a moderate physicochemical difference between proline and glutamine. For these reasons, this variant has been classified as Uncertain Significance.

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