ClinVar Miner

Submissions for variant NM_001193466.2(KANSL1):c.1654C>A (p.Leu552Ile) (rs144337302)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187779 SCV000241376 uncertain significance not specified 2014-03-10 criteria provided, single submitter clinical testing This variant is denoted p.Leu552Ile (CTT>ATT): c.1654 C>A in exon 6 of the KANSL1 gene (NM_001193466.1). The L552I variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The L522I variant was not observed with any significant frequency in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project. This substitution occurs at a position that is conserved in mammals. However, the L552I variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties, and nearby missense mutations in the KANSL1 gene have not been reported in individuals with epilepsy to our knowledge. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. The variant is found in INFANT-EPI panel(s).
Invitae RCV001421529 SCV001624054 likely benign Koolen-de Vries syndrome 2020-11-03 criteria provided, single submitter clinical testing

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