ClinVar Miner

Submissions for variant NM_024747.6(HPS6):c.1732C>T (p.Arg578Ter)

dbSNP: rs940319528
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
Invitae RCV003660889 SCV004375973 pathogenic not provided 2023-01-24 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 996367). This premature translational stop signal has been observed in individual(s) with Hermansky–Pudlak syndrome (PMID: 33878481). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg578*) in the HPS6 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 198 amino acid(s) of the HPS6 protein. This variant disrupts a region of the HPS6 protein in which other variant(s) (p.Gln680*) have been determined to be pathogenic (PMID: 27225848). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University RCV001290774 SCV001478885 likely pathogenic Hermansky-Pudlak syndrome 6 2020-11-13 no assertion criteria provided clinical testing

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.