ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.805C>T (p.Pro269Ser)

gnomAD frequency: 0.00016  dbSNP: rs200903841
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187801 SCV000241398 uncertain significance not provided 2014-03-25 criteria provided, single submitter clinical testing This variant is denoted p.Pro269Ser (P269S) CCC>TCC: c.805 C>T in exon 2 of the KANSL1 gene (NM_001193466.1).The P269S variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The P269S variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. However, this substitution occurs at a position that is not conserved across species, and in silico analysis predicts this variant likely does not alter the protein structure/function. To date, missense mutations have not been associated with 17q21.31 microdeletion syndrome. Therefore, based on the currently available information, it is still unclear whether this variant is a pathogenic mutation or a rare benign variant. The variant is found in EPILEPSY panel(s).
Invitae RCV000644667 SCV000766370 uncertain significance Koolen-de Vries syndrome 2021-09-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000644667 SCV002799535 uncertain significance Koolen-de Vries syndrome 2021-07-27 criteria provided, single submitter clinical testing

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