ClinVar Miner

Submissions for variant NM_001382567.1(STIM1):c.700_707del (p.Asn234fs)

dbSNP: rs1590688717
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
Labcorp Genetics (formerly Invitae), Labcorp RCV002233886 SCV000937193 pathogenic Stormorken syndrome; Combined immunodeficiency due to STIM1 deficiency; Myopathy with tubular aggregates 2018-12-25 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with STIM1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Asn234Leufs*19) in the STIM1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in STIM1 are known to be pathogenic (PMID: 19420366, 20876309). For these reasons, this variant has been classified as Pathogenic.
GenomeConnect - Invitae Patient Insights Network RCV003483726 SCV004228518 not provided Myopathy, tubular aggregate, 1; Stormorken syndrome; Combined immunodeficiency due to STIM1 deficiency no assertion provided phenotyping only Variant interpreted as Pathogenic and reported on 01-05-2019 by Lab Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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.