ClinVar Miner

Submissions for variant NM_152558.5(IQCE):c.1350_1353del

dbSNP: rs760694987
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg University RCV000852375 SCV000929971 pathogenic Polydactyly, postaxial, type A1 2019-02-01 criteria provided, single submitter research
OMIM RCV001255655 SCV001432216 pathogenic Polydactyly, postaxial, type a7 2020-09-11 no assertion criteria provided literature only
PreventionGenetics, part of Exact Sciences RCV003413586 SCV004116883 likely pathogenic IQCE-related disorder 2024-03-13 no assertion criteria provided clinical testing The IQCE c.1350_1353delAGAG variant is predicted to result in a frameshift and premature protein termination (p.Glu452Aspfs*28). This variant has been reported in the compound heterozygous state along with IQCE c.895_904del10 in three siblings with postaxial polydactyly (Estrada-Cuzcano et al. 2020. PubMed ID: 31549751). This variant is reported in 0.073% of alleles in individuals of Latino descent in gnomAD). Frameshift variants in IQCE are expected to be pathogenic. This variant is interpreted as likely pathogenic.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.