ClinVar Miner

Submissions for variant NM_000081.4(LYST):c.5374A>G (p.Asn1792Asp)

gnomAD frequency: 0.00010  dbSNP: rs143696500
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
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002262044 SCV002543641 likely benign Autoinflammatory syndrome 2020-09-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003418429 SCV004113206 uncertain significance LYST-related disorder 2023-03-07 criteria provided, single submitter clinical testing The LYST c.5374A>G variant is predicted to result in the amino acid substitution p.Asn1792Asp. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.15% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/1-235940449-T-C). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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.