ClinVar Miner

Submissions for variant NM_007254.4(PNKP):c.1221_1223del (p.Thr408del) (rs786205207)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000500375 SCV000596488 likely pathogenic Early infantile epileptic encephalopathy 10 2017-04-07 criteria provided, single submitter clinical testing
Invitae RCV001226527 SCV001398844 pathogenic Early infantile epileptic encephalopathy 12 2020-05-29 criteria provided, single submitter clinical testing This variant, c.1221_1223del, results in the deletion of 1 amino acid(s) of the PNKP protein (p.Thr408del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with PNKP-related conditions (PMID: 25728773, 27066567, 30039206, Invitae). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 190219). This variant has been reported to affect PNKP protein function (PMID: 27066567). For these reasons, this variant has been classified as Pathogenic.
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001268911 SCV001448160 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
OMIM RCV000170438 SCV000218380 pathogenic Ataxia-oculomotor apraxia 4 2015-03-05 no assertion criteria provided literature only
Mendelics RCV000170438 SCV000222876 pathogenic Ataxia-oculomotor apraxia 4 2015-04-09 no assertion criteria provided clinical testing
OMIM RCV001093540 SCV001250589 pathogenic Charcot-Marie-Tooth disease type 2B2 2015-03-05 no assertion criteria provided literature only

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