ClinVar Miner

Submissions for variant NM_032383.5(HPS3):c.655G>T (p.Glu219Ter)

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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 RCV003553131 SCV004269508 pathogenic not provided 2023-06-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu219*) 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.
Fulgent Genetics, Fulgent Genetics RCV005030086 SCV005662853 likely pathogenic Hermansky-Pudlak syndrome 3 2024-05-14 criteria provided, single submitter clinical testing

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