ClinVar Miner

Submissions for variant NC_000003.11:g.(148847728_148857790)_(148890984_?)del

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002282932 SCV002570968 likely pathogenic Hermansky-Pudlak syndrome 2022-07-22 criteria provided, single submitter clinical testing Variant summary: The variant identified by MLPA or other technology involves the deletion of exons 2-17 in the HPS3 gene. A presumed nomenclature of c.(217+1_218-1)_(*975_?)del has been designated for the purposes of this classification. Although exact breakpoints of this deletion are not known, it is expected to result in a frameshift in the HPS3 gene, a known mechanism of disease. The variant was absent in 21692 control chromosomes (gnomAD, Structural Variants dataset). To our knowledge, no occurrence of c.(217+1_218-1)_(*975_?)del in individuals affected with Hermansky-Pudlak Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. One ClinVar submitter (evaluation after 2014) cites the variant as likely pathogenic. Based on the evidence outlined above, the variant was classified 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.