ClinVar Miner

Submissions for variant NM_000195.5(HPS1):c.1698G>A (p.Ser566=)

gnomAD frequency: 0.00596  dbSNP: rs148450315
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000175128 SCV000226560 benign not specified 2015-05-15 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000175128 SCV000247567 benign not specified 2016-07-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000175128 SCV000302932 benign not specified criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000175128 SCV000711320 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Ser566Ser in exon 17 of HPS1: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been identified in 1.0% (83/8600) of Eu ropean American chromosomes from a broad population by the NHLBI Exome Sequencin g Project (; dbSNP rs148450315).
Invitae RCV000960269 SCV001107230 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001106275 SCV001263322 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.
CeGaT Center for Human Genetics Tuebingen RCV000960269 SCV001746036 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing HPS1: BP4, BP7, BS2
Natera, Inc. RCV001273025 SCV001455559 benign Hermansky-Pudlak syndrome 2020-09-16 no assertion criteria provided clinical testing

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