Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
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, |
RCV000644667 | SCV002799535 | uncertain significance | Koolen-de Vries syndrome | 2021-07-27 | criteria provided, single submitter | clinical testing |