ClinVar Miner

Submissions for variant NM_032383.5(HPS3):c.89_114del (p.Arg30fs)

dbSNP: rs1553750083
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672579 SCV000797694 likely pathogenic Hermansky-Pudlak syndrome 3 2018-02-06 criteria provided, single submitter clinical testing
Invitae RCV001058293 SCV001222851 pathogenic not provided 2023-02-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg30Leufs*42) 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. ClinVar contains an entry for this variant (Variation ID: 556558). For these reasons, this variant has been classified as Pathogenic.

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