Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001349953 | SCV001544321 | uncertain significance | Koolen-de Vries syndrome | 2020-08-06 | criteria provided, single submitter | clinical testing | Due to the possible presence of a polymorphic segmental duplication, the location of the variant could not be unambiguously resolved. If the variant occurs in the KANSL1 gene, this sequence change creates a premature translational stop signal (p.Ser165*) in the KANSL1 gene. It is expected to result in an absent or disrupted protein product. The frequency data for this variant in the population databases (ExAC) is considered unreliable due to the presence of homologous sequence, such as pseudogenes or paralogs, in the genome. This variant has not been reported in the literature in individuals with KANSL1-related conditions. If this variant occurs in KANSL1, it is expected to be pathogenic. However, due to the uncertainty of the location of this sequence change, it has been classified as a Variant of Uncertain Significance. |