ClinVar Miner

Submissions for variant NM_032383.5(HPS3):c.1479G>A (p.Thr493=)

gnomAD frequency: 0.03245  dbSNP: rs34197730
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Total submissions: 9
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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 RCV000155546 SCV000205247 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Thr493Thr in exon 8 of HPS3: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue and is not located withi n the splice consensus sequence. It has been identified in 3.4% (294/8600) of Eu ropean American chromosomes from a broad population by the NHLBI Exome Sequencin g Project (http://evs.gs.washington.edu/EVS; dbSNP rs34197730).
PreventionGenetics, part of Exact Sciences RCV000155546 SCV000314900 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000368556 SCV000441556 benign Hermansky-Pudlak syndrome 3 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 RCV001520790 SCV001729980 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000368556 SCV001762751 benign Hermansky-Pudlak syndrome 3 2021-07-10 criteria provided, single submitter clinical testing
GeneDx RCV001520790 SCV001791640 likely benign not provided 2020-01-20 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001520790 SCV005260878 likely benign not provided criteria provided, single submitter not provided
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000155546 SCV005886163 benign not specified 2025-02-09 criteria provided, single submitter clinical testing
Natera, Inc. RCV001272474 SCV001454536 benign Hermansky-Pudlak syndrome 2020-09-16 no assertion criteria provided clinical testing

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