ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.3238C>T (p.Pro1080Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001979134 SCV002225187 uncertain significance Koolen-de Vries syndrome 2022-10-27 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 1080 of the KANSL1 protein (p.Pro1080Ser). This variant is present in population databases (rs199769766, gnomAD 0.003%). 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: 1441586). 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. 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.
Fulgent Genetics, Fulgent Genetics RCV001979134 SCV002815699 uncertain significance Koolen-de Vries syndrome 2022-02-26 criteria provided, single submitter clinical testing

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