ClinVar Miner

Submissions for variant NM_032383.5(HPS3):c.981A>G (p.Thr327=)

gnomAD frequency: 0.28006  dbSNP: rs11718908
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Total submissions: 7
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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 RCV000155545 SCV000205246 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Thr327Thr in exon 5 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 42.8% (1887/4406) of African American chromosomes from a broad population by the NHLBI Exome Sequenci ng Project (http://evs.gs.washington.edu/EVS; dbSNP rs11718908).
PreventionGenetics, part of Exact Sciences RCV000155545 SCV000314906 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000376220 SCV000441548 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.
Invitae RCV001520210 SCV001729270 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001520210 SCV001753970 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000376220 SCV001762747 benign Hermansky-Pudlak syndrome 3 2021-07-10 criteria provided, single submitter clinical testing
Natera, Inc. RCV001272472 SCV001454533 benign Hermansky-Pudlak syndrome 2020-09-16 no assertion criteria provided clinical testing

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