ClinVar Miner

Submissions for variant NM_007254.4(PNKP):c.1032G>A (p.Arg344=)

gnomAD frequency: 0.00406  dbSNP: rs185452809
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000147343 SCV000171061 benign not specified 2013-10-02 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.
Eurofins Ntd Llc (ga) RCV000147343 SCV000335176 benign not specified 2015-10-06 criteria provided, single submitter clinical testing
Invitae RCV000463085 SCV000560514 benign Developmental and epileptic encephalopathy, 12 2024-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002312587 SCV000845875 likely benign Inborn genetic diseases 2016-03-18 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Genetic Services Laboratory, University of Chicago RCV000147343 SCV000194716 likely benign not specified no assertion criteria provided clinical testing

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