Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000480226 | SCV000573940 | uncertain significance | not provided | 2019-06-03 | criteria provided, single submitter | clinical testing | Frameshift variant predicted to result in protein truncation as the last 2 amino acids are lost and replaced with 12] incorrect amino acids, although loss-of-function variants have not been reported downstream of this position in the protein; Has not been previously published as pathogenic or benign to our knowledge |
Invitae | RCV001851270 | SCV002192162 | uncertain significance | Koolen-de Vries syndrome | 2022-01-07 | criteria provided, single submitter | clinical testing | 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 424157). This variant has not been reported in the literature in individuals affected with KANSL1-related conditions. This variant is present in population databases (rs761370843, gnomAD 0.006%). This sequence change results in a frameshift in the KANSL1 gene (p.His1104Glnfs*13). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 2 amino acid(s) of the KANSL1 protein and extend the protein by 10 additional amino acid residues. |