ClinVar Miner

Submissions for variant NM_007254.4(PNKP):c.58C>T (p.Pro20Ser) (rs3739168)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000081512 SCV000113443 benign not specified 2013-09-06 criteria provided, single submitter clinical testing
GeneDx RCV000081512 SCV000171074 benign not specified 2012-05-11 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genetic Services Laboratory, University of Chicago RCV000081512 SCV000194740 benign not specified 2013-07-30 criteria provided, single submitter clinical testing
Invitae RCV000230285 SCV000289711 benign Early infantile epileptic encephalopathy 12 2018-01-08 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000081512 SCV000540071 likely benign not specified 2016-06-02 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: reported in 1 homozygous individual with epileptic encephalopathy by Carvill, 2013. However, the frequency in ExAC (0.75% in ExAC) and the presence of 5 homozygotes in ExAC argue against a pathogenic role for this variant
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000625160 SCV000743938 benign Early infantile epileptic encephalopathy 10 2014-10-09 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000625160 SCV000745400 benign Early infantile epileptic encephalopathy 10 2017-05-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716137 SCV000846973 benign History of neurodevelopmental disorder 2017-05-24 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Other data supporting benign classification

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