Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000697904 | SCV000826538 | uncertain significance | Intellectual disability, X-linked 1 | 2021-08-26 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002332469 | SCV002627416 | uncertain significance | Inborn genetic diseases | 2019-10-28 | criteria provided, single submitter | clinical testing | The p.P1406H variant (also known as c.4217C>A), located in coding exon 15 of the IQSEC2 gene, results from a C to A substitution at nucleotide position 4217. The proline at codon 1406 is replaced by histidine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species; however, histidine is the reference amino acid in other vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |