ClinVar Miner

Submissions for variant NM_032383.5(HPS3):c.1838C>G (p.Ser613Ter)

gnomAD frequency: 0.00001  dbSNP: rs755083879
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000817323 SCV000957877 pathogenic not provided 2024-03-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser613*) 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 (rs755083879, gnomAD 0.06%). This premature translational stop signal has been observed in individual(s) with Hermansky-Pudlak syndrome (PMID: 30387913). ClinVar contains an entry for this variant (Variation ID: 660187). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002495161 SCV002798527 pathogenic Hermansky-Pudlak syndrome 3 2022-04-28 criteria provided, single submitter clinical testing
Baylor Genetics RCV002495161 SCV004199991 pathogenic Hermansky-Pudlak syndrome 3 2024-03-27 criteria provided, single submitter clinical testing
Natera, Inc. RCV001272477 SCV001454539 pathogenic Hermansky-Pudlak syndrome 2020-09-16 no assertion criteria provided clinical testing

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