ClinVar Miner

Submissions for variant NM_000195.5(HPS1):c.1472C>G (p.Pro491Arg)

dbSNP: rs2296434
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000150811 SCV000198346 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Pro491Arg in exon 15 of HPS1: This variant is not expected to have clinical sign ificance because it has been identified in 11.0% (484/4406) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs2296434).
PreventionGenetics, part of Exact Sciences RCV000150811 SCV000302927 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000020184 SCV000359655 benign Hermansky-Pudlak syndrome 1 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae RCV001518652 SCV001727388 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000020184 SCV001754922 benign Hermansky-Pudlak syndrome 1 2021-07-10 criteria provided, single submitter clinical testing
GeneDx RCV001518652 SCV001897215 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Natera, Inc. RCV001273027 SCV001455562 benign Hermansky-Pudlak syndrome 2020-09-16 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.