ClinVar Miner

Submissions for variant NM_007254.4(PNKP):c.1282G>A (p.Ala428Thr)

gnomAD frequency: 0.00001  dbSNP: rs1568659088
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001810335 SCV002056029 uncertain significance not provided 2022-07-13 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 22508754)
New York Genome Center RCV001837040 SCV002098021 uncertain significance Microcephaly, seizures, and developmental delay 2020-06-25 criteria provided, single submitter clinical testing

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