ClinVar Miner

Submissions for variant NM_032383.5(HPS3):c.2739_2742del (p.Glu913fs)

dbSNP: rs1277509410
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000661946 SCV000784274 likely pathogenic Hermansky-Pudlak syndrome 3 2018-03-05 criteria provided, single submitter clinical testing
Invitae RCV001855395 SCV002121468 pathogenic not provided 2023-10-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu913Aspfs*14) in the HPS3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in HPS3 are known to be pathogenic (PMID: 11590544). This variant is present in population databases (no rsID available, gnomAD 0.007%). This premature translational stop signal has been observed in individual(s) with Hermansky–Pudlak syndrome type 3 (PMID: 31898847). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV000661946 SCV002812732 pathogenic Hermansky-Pudlak syndrome 3 2022-02-16 criteria provided, single submitter clinical testing
Revvity Omics, Revvity Omics RCV000661946 SCV003829064 likely pathogenic Hermansky-Pudlak syndrome 3 2022-09-25 criteria provided, single submitter clinical testing
Baylor Genetics RCV000661946 SCV004200000 likely pathogenic Hermansky-Pudlak syndrome 3 2023-09-21 criteria provided, single submitter clinical testing

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