ClinVar Miner

Submissions for variant NM_000195.5(HPS1):c.1808A>G (p.Gln603Arg)

gnomAD frequency: 0.09989  dbSNP: rs2296436
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000150810 SCV000198345 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Gln603Arg in exon 18 of HPS1: This variant is not expected to have clinical sign ificance because it has been identified in 13.9% (614/4406) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs2296436).
PreventionGenetics, part of Exact Sciences RCV000150810 SCV000302933 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000020189 SCV000359649 benign Hermansky-Pudlak syndrome 1 2018-01-13 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001518651 SCV001727387 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000020189 SCV001754920 benign Hermansky-Pudlak syndrome 1 2021-07-10 criteria provided, single submitter clinical testing
GeneDx RCV001518651 SCV001938894 benign not provided 2019-07-25 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001518651 SCV005318424 benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV001273023 SCV001455557 benign Hermansky-Pudlak syndrome 2020-09-16 no assertion criteria provided clinical testing

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