Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001221185 | SCV001393211 | pathogenic | Koolen-de Vries syndrome | 2023-12-19 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg1011*) in the KANSL1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in KANSL1 are known to be pathogenic (PMID: 22544363, 22544367). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with KANSL1-related conditions. ClinVar contains an entry for this variant (Variation ID: 949673). For these reasons, this variant has been classified as Pathogenic. |
| Revvity Omics, |
RCV001221185 | SCV002016757 | likely pathogenic | Koolen-de Vries syndrome | 2021-09-22 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV005348366 | SCV006019400 | pathogenic | Inborn genetic diseases | 2025-01-27 | criteria provided, single submitter | clinical testing | The c.3031C>T (p.R1011*) alteration, located in exon 14 (coding exon 13) of the KANSL1 gene, consists of a C to T substitution at nucleotide position 3031. This changes the amino acid from an arginine (R) to a stop codon at amino acid position 1011. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). This variant was reported in individual(s) with features consistent with Koolen-de Vries syndrome (Shimelis, 2023). Based on the available evidence, this alteration is classified as pathogenic. |