ClinVar Miner

Submissions for variant NM_032383.5(HPS3):c.2289del (p.Phe763fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003469804 SCV004192289 likely pathogenic Hermansky-Pudlak syndrome 3 2024-03-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005100173 SCV005780335 pathogenic not provided 2024-10-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Phe763Leufs*17) 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 not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with HPS3-related conditions. For these reasons, this variant has been classified as Pathogenic.

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