ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.2287G>A (p.Val763Met)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine RCV001823626 SCV002073208 uncertain significance Koolen-de Vries syndrome criteria provided, single submitter clinical testing The missense variant p.V763M in KANSL1 (NM_001193466.2) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.V763M variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. There is a small physicochemical difference between valine and methionine, which is not likely to impact secondary protein structure as these residues share similar properties. The p.V763M missense variant is predicted to be damaging by both SIFT and PolyPhen2. The nucleotide c.2287 in KANSL1 is predicted conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance.

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