ClinVar Miner

Submissions for variant NM_032383.5(HPS3):c.995_996dup (p.Leu333fs)

dbSNP: rs763305108
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001783429 SCV002025018 pathogenic Hermansky-Pudlak syndrome 3 2020-04-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001868849 SCV002240129 pathogenic not provided 2021-07-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu333Ilefs*9) 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). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with HPS3-related conditions. This variant is present in population databases (rs763305108, ExAC 0.006%).

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