ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.1462C>G (p.Pro488Ala)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004989691 SCV005603958 uncertain significance Inborn genetic diseases 2024-08-27 criteria provided, single submitter clinical testing The c.1462C>G (p.P488A) alteration is located in exon 4 (coding exon 3) of the KANSL1 gene. This alteration results from a C to G substitution at nucleotide position 1462, causing the proline (P) at amino acid position 488 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV005110393 SCV005762133 uncertain significance Koolen-de Vries syndrome 2024-07-30 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 488 of the KANSL1 protein (p.Pro488Ala). 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. 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 with a negative predictive value of 80%. 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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