ClinVar Miner

Submissions for variant NM_007254.4(PNKP):c.1549C>T (p.Gln517Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001059483 SCV001224107 pathogenic Early infantile epileptic encephalopathy 12 2019-04-23 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the PNKP gene (p.Gln517*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 5 amino acids of the PNKP protein. This variant is present in population databases (rs774995635, ExAC 0.009%). This variant has been observed to segregate with clinical features of Charcot-Marie-Tooth disease in a family (PMID: 30039206) and has been observed in several additional unrelated, affected individuals. For these reasons, this variant has been classified as Pathogenic.
OMIM RCV001093541 SCV001250590 pathogenic Charcot-Marie-Tooth disease type 2B2 2020-05-07 no assertion criteria provided literature only

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