ClinVar Miner

Submissions for variant NM_007254.4(PNKP):c.1133A>C (p.Lys378Thr)

dbSNP: rs1600416892
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard RCV001004870 SCV001164351 uncertain significance Microcephaly, seizures, and developmental delay 2018-12-03 criteria provided, single submitter research The homozygous p.Lys378Thr variant in PNKP was identified by our study in one individual with microcephaly, seizures, and developmental delay. The p.Lys378Thr variant in PNKP has not been previously reported in individuals with microcephaly, seizures, and developmental delay but was absent from large population studies. Computational prediction tools and conservation analyses suggest that this variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical significance of the p.Lys378Thr variant is uncertain. ACMG/AMP Criteria applied: PM2, PP3 (Richards 2015).

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