ClinVar Miner

Submissions for variant NM_032383.5(HPS3):c.1686C>A (p.Tyr562Ter)

dbSNP: rs1292407171
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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 RCV001382963 SCV001581924 pathogenic not provided 2023-04-23 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1070715). This variant has not been reported in the literature in individuals affected with HPS3-related conditions. This sequence change creates a premature translational stop signal (p.Tyr562*) 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 RCV003469685 SCV004192294 likely pathogenic Hermansky-Pudlak syndrome 3 2024-02-24 criteria provided, single submitter clinical testing

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