ClinVar Miner

Submissions for variant NM_001111125.3(IQSEC2):c.3163C>T (p.Arg1055Ter)

dbSNP: rs2147027403
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001817680 SCV002072232 pathogenic not provided 2017-09-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002542700 SCV003445156 pathogenic Intellectual disability, X-linked 1 2022-08-21 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1338309). For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with X-linked intellectual disability (PMID: 25649377, 29100083, 30206421). This sequence change creates a premature translational stop signal (p.Arg1055*) 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).
Duke University Health System Sequencing Clinic, Duke University Health System RCV003223429 SCV003918967 pathogenic Paraplegia-intellectual disability-hyperkeratosis syndrome 2023-04-20 criteria provided, single submitter research

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