Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000114357 | SCV000954190 | pathogenic | Intellectual disability, X-linked 1 | 2023-07-07 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg855*) in the IQSEC2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in IQSEC2 are known to be pathogenic (PMID: 21686261, 26793055, 27665735). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with muscular hypotonia, motor delay, brachycephaly, strabismus and autistic behaviour including avoiding eye contact, repetitive hand movements, and microcephaly (PMID: 23674175; Invitae). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 126417). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. For these reasons, this variant has been classified as Pathogenic. |
OMIM | RCV000114357 | SCV000147969 | pathogenic | Intellectual disability, X-linked 1 | 2014-02-01 | no assertion criteria provided | literature only |