Submissions for variant NM_015443.4(KANSL1):c.3312_3313del (p.His1104fs)

dbSNP: rs761370843

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	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	2021-10-31	criteria provided, single submitter	clinical testing	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. This variant is present in population databases (rs761370843, gnomAD 0.006%). 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: 424157). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.