Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000686813 | SCV000814348 | pathogenic | Intellectual disability, X-linked 1 | 2020-04-06 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in IQSEC2 are known to be pathogenic (PMID: 21686261, 26793055, 27665735). This variant has been observed in individual(s) with seizures and intellectual disability (PMID: 27652284, 30206421). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 566884). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Tyr1129*) in the IQSEC2 gene. It is expected to result in an absent or disrupted protein product. |