ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.3011C>T (p.Pro1004Leu)

gnomAD frequency: 0.00001  dbSNP: rs573432386
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital RCV001733551 SCV001984132 uncertain significance Koolen-de Vries syndrome 2020-10-14 criteria provided, single submitter clinical testing
Invitae RCV001733551 SCV004522209 uncertain significance Koolen-de Vries syndrome 2023-04-14 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt KANSL1 protein function. ClinVar contains an entry for this variant (Variation ID: 1301589). This variant has not been reported in the literature in individuals affected with KANSL1-related conditions. This variant is present in population databases (rs573432386, gnomAD 0.01%). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 1004 of the KANSL1 protein (p.Pro1004Leu).

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