Total submissions: 1
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| New York Genome Center | RCV001542404 | SCV001761103 | uncertain significance | Developmental and epileptic encephalopathy, 26 | 2020-07-03 | criteria provided, single submitter | clinical testing | The inherited 20q13.13 duplication is a 197.7Kb tandem duplication on the long arm of chromosome 20 thta contains four OMIM associated protein-coding genes including full duplication of DDX27 and ZNFX1, as well as partial duplication of STAU1 and KCNB1. To our current knowledge, the duplication identified in this individual has not been reported in affected individuals the literature. Of the four OMIM associated protein-coding genes within this duplication, only KCNB1is disease associated. KCNB1gene consists of a total of two exons that encode a protein of 858 amino acids. This duplication contains exon 2 (but not exon 1) of the KCNB1 gene. The ClinVar database contains a 366.9 kb duplication that involves the exon 2 of KCNB1 (i.e. partial duplication of KCNB1, ClinVar variation ID:146041), and is classified as a variant of uncertain significance. The exact duplication identified in this individual has not been reported in the literature. Given the uncertainty regarding the functional consequencesof the inherited 20q13.13 duplication it is reported as a Variant of Uncertain Significance. |