ClinVar Miner

Submissions for variant NM_007254.4(PNKP):c.1317_1321dup (p.Ala441fs) (rs796052862)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000188475 SCV000226311 pathogenic not provided 2014-11-18 criteria provided, single submitter clinical testing
GeneDx RCV000188475 SCV000242089 pathogenic not provided 2016-09-30 criteria provided, single submitter clinical testing The c.1317_1321dupAGCCG mutation in the PNKP gene causes a frameshift starting with codon Alanine 441, changes this amino acid to a Glutamic acid residue and creates a premature Stop codon at position 28 of the new reading frame, denoted p.Ala441GlufsX28. This mutation is predicted to cause loss of normal protein function through protein truncation, as the last 81 amino acids of the PNKP protein are lost and replaced with 27 incorrect amino acids. Although this mutation has not been previously reported to our knowledge, it is considered a disease-causing mutation.

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