Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001229043 | SCV001401474 | uncertain significance | Koolen-de Vries syndrome | 2022-09-06 | 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 956271). This variant has not been reported in the literature in individuals with KANSL1-related conditions. This variant is present in population databases (rs770400570, gnomAD 0.0009%). This sequence change replaces serine, which is neutral and polar, with tyrosine, which is neutral and polar, at codon 232 of the KANSL1 protein (p.Ser232Tyr). 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. |