ClinVar Miner

Submissions for variant NM_032383.5(HPS3):c.2424del (p.Ile807_Trp808insTer)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002721464 SCV003004804 pathogenic not provided 2022-07-21 criteria provided, single submitter clinical testing 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 not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp808*) 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).
Baylor Genetics RCV003465820 SCV004192283 likely pathogenic Hermansky-Pudlak syndrome 3 2023-05-04 criteria provided, single submitter clinical testing

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