Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000540202 | SCV000649569 | pathogenic | Intellectual disability, X-linked 1 | 2017-03-09 | criteria provided, single submitter | clinical testing | 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). This sequence change inserts 1 nucleotide in exon 5 of the IQSEC2 mRNA (c.1649dupC), causing a frameshift at codon 551. This creates a premature translational stop signal (p.Leu551Serfs*17) and is expected to result in an absent or disrupted protein product. |