Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000187788 | SCV000241385 | likely benign | not provided | 2020-03-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000543264 | SCV000645058 | uncertain significance | Koolen-de Vries syndrome | 2019-10-25 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine with histidine at codon 1019 of the KANSL1 protein (p.Arg1019His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs781056926, ExAC 0.03%). This variant has not been reported in the literature in individuals with KANSL1-related disease. ClinVar contains an entry for this variant (Variation ID: 205800). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: Tolerated; PolyPhen-2: Probably Damaging; Align-GVGD: Class C0). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
Fulgent Genetics, |
RCV000543264 | SCV000895108 | uncertain significance | Koolen-de Vries syndrome | 2018-10-31 | criteria provided, single submitter | clinical testing |