ClinVar Miner

Submissions for variant NM_007254.4(PNKP):c.1522G>A (p.Glu508Lys)

gnomAD frequency: 0.00280  dbSNP: rs146478958
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000127494 SCV000171071 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.
Genetic Services Laboratory, University of Chicago RCV000147354 SCV000194729 uncertain significance Microcephaly, seizures, and developmental delay 2014-04-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001083078 SCV000650114 benign Developmental and epileptic encephalopathy, 12 2024-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002316393 SCV000850686 benign Inborn genetic diseases 2018-07-23 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, 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.
Athena Diagnostics RCV000534993 SCV001145118 benign not provided 2018-11-28 criteria provided, single submitter clinical testing

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