Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000187790 | SCV000241387 | uncertain significance | not provided | 2014-03-17 | criteria provided, single submitter | clinical testing | This variant is denoted p.Ala7Thr (GCT>ACT): c.19 G>A in exon 2 of the KANSL1 gene (NM_001193466.1). The A7T 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 A7T 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. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function; however missense mutations associated with KANSL1-related disorders have not been reported in this region of the protein. 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 | RCV001497152 | SCV001701871 | likely benign | Koolen-de Vries syndrome | 2021-08-10 | criteria provided, single submitter | clinical testing |