ClinVar Miner

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

dbSNP: rs761370843
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Total submissions: 2
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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.

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