ClinVar Miner

Submissions for variant NM_001127698.2(SPINK5):c.1431-12G>A (rs368134354)

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
GeneDx RCV000414252 SCV000490828 likely pathogenic not provided 2016-08-12 criteria provided, single submitter clinical testing The c.1431-12 G>A variant in the SPINK5 gene has been reported previously in several unrelated patients with Netherton syndrome, in the heterozygous as well as homozygous state (Raghunath et al., 2004; Renner et al., 2009; Ilias et al., 2015; Diociaiuti et al., 2016). This variant is predicted by in silico models to destroy the natural splice acceptor site in intron 15, while a stronger splice acceptor site is created 10 bases upstream from the natural splice acceptor site. In addition, the c.1431-12 G>A variant was not observed at any significant frequency in approximately 5900 individuals of European and African American ancestry by the NHLBI Exome Sequencing Project. Therefore, the c.1431-12 G>A variant is a strong candidate for a pathogenic variant.
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000414954 SCV000492793 likely pathogenic Erythroderma; Increased IgE level 2015-07-13 criteria provided, single submitter clinical testing
OMIM RCV000766268 SCV000897725 pathogenic Netherton syndrome 2019-04-08 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.