Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000555522 | SCV000649593 | pathogenic | Intellectual disability, X-linked 1 | 2017-02-08 | criteria provided, single submitter | clinical testing | This sequence change deletes 1 nucleotide from exon 3 of the IQSEC2 mRNA (c.863delT), causing a frameshift at codon 288. This creates a premature translational stop signal (p.Val288Glyfs*18) and is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. While this particular variant has not been reported in the literature, loss-of-function variants in IQSEC2 are known to be pathogenic (PMID: 21686261, 26793055). |