Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000598826 | SCV000710202 | uncertain significance | not provided | 2017-12-19 | criteria provided, single submitter | clinical testing | A variant of uncertain significance has been identified in the IKBKAP gene. The c.-59_-56+15del19variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. This variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). The c.-59_-56+15del19 variant does not alter the Kozak sequence, but is expected to lose a natural splice donor site for the non-coding exon 1 in the 5' UTR. However, in the absence of RNA/functional studies, the actual effect of the c.-59_-56+15del19 variant in this individual is uncertain. Additionally, no regulatory variants have been reported in the IKBKAP gene in association with IKBKAP-related disorders (Stenson et al., 2014). Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant. |
| Counsyl | RCV000670186 | SCV000795014 | uncertain significance | Familial dysautonomia | 2017-10-24 | criteria provided, single submitter | clinical testing |