Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Broad Center for Mendelian Genomics, |
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). |