ClinVar Miner

Submissions for variant NM_007254.4(PNKP):c.987C>T (p.Leu329=)

gnomAD frequency: 0.00001  dbSNP: rs150644303
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001441315 SCV001644242 likely benign Developmental and epileptic encephalopathy, 12 2023-10-22 criteria provided, single submitter clinical testing
GeneDx RCV000943335 SCV001855800 likely benign not provided 2019-11-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002382158 SCV002693236 likely benign Inborn genetic diseases 2017-12-16 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.
Revvity Omics, Revvity RCV000943335 SCV004237862 likely benign not provided 2023-10-30 criteria provided, single submitter clinical testing

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