Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001042689 | SCV001206388 | uncertain significance | Koolen-de Vries syndrome | 2022-07-06 | criteria provided, single submitter | clinical testing | Until the location of this sequence change can be resolved, the clinical significance of this variant remains uncertain. It has been classified as a Variant of Uncertain Significance. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. ClinVar contains an entry for this variant (Variation ID: 840647). This variant has not been reported in the literature in individuals with KANSL1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 2 of the KANSL1 gene. It does not directly change the encoded amino acid sequence of the KANSL1 protein. It affects a nucleotide within the consensus splice site. Due to the possible presence of a polymorphic segmental duplication, the location of the variant could not be unambiguously resolved. Variants with ambiguous mapping are still reported relative to the KANSL1 transcript. |