ClinVar Miner

Submissions for variant NM_032383.5(HPS3):c.319C>T (p.Arg107Ter)

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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 RCV002594436 SCV002953207 pathogenic not provided 2024-01-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg107*) 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 premature translational stop signal has been observed in individual(s) with clinical features of Hermansky-Pudlak syndrome (PMID: 31141302). ClinVar contains an entry for this variant (Variation ID: 1916244). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV004571185 SCV005059726 pathogenic Hermansky-Pudlak syndrome 3 2023-12-17 criteria provided, single submitter clinical testing

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