ClinVar Miner

Submissions for variant NM_007254.4(PNKP):c.1215dup (p.Val406fs)

gnomAD frequency: 0.00001  dbSNP: rs1389034284
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000519467 SCV000618652 likely pathogenic not provided 2018-02-05 criteria provided, single submitter clinical testing A variant that is likely pathogenic has been identified in the PNKP gene. The c.1215dupT variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.1215dupT variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The c.1215dupT variant causes a frameshift starting with codon Valine 406, changes this amino acid to a Cysteine residue and creates a premature Stop codon at position 5 of the new reading frame, denoted p.Val406CysfsX5. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.

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