ClinVar Miner

Submissions for variant NM_001031717.4(CRELD1):c.932C>T (p.Thr311Ile) (rs28942092)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000498207 SCV000589321 uncertain significance not provided 2017-06-15 criteria provided, single submitter clinical testing The T311I variant in the CRELD1 gene has been reported previously in one individual with isolated partial atrioventricular septal defect (Robinson et al., 2003). The T311I variant is observed in 41/66354 (0.062%) alleles from individuals of European (Non-Finnish) background in the ExAC dataset (Lek et al., 2016). The T311I variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. However, this substitution occurs at a position that is not conserved. In addition, functional studies of the T311I variant demonstrated no impact on calcineurin/NFAT signaling, suggesting no change in CRELD1 function (Mass et al., 2014). We interpret T311I as a variant of uncertain significance.
OMIM RCV000003597 SCV000023755 risk factor Atrioventricular septal defect 2 2003-04-01 no assertion criteria provided literature only

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.