ClinVar Miner

Submissions for variant NM_032383.5(HPS3):c.2733del (p.Leu911_Leu912insTer)

gnomAD frequency: 0.00001  dbSNP: rs765169755
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001887287 SCV002159070 pathogenic not provided 2023-12-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu912*) 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 present in population databases (rs765169755, gnomAD 0.0009%). This premature translational stop signal has been observed in individual(s) with Hermansky-Pudlak syndrome (PMID: 31898847). ClinVar contains an entry for this variant (Variation ID: 1395878). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002482749 SCV002781699 likely pathogenic Hermansky-Pudlak syndrome 3 2022-04-13 criteria provided, single submitter clinical testing
Baylor Genetics RCV002482749 SCV004200008 pathogenic Hermansky-Pudlak syndrome 3 2024-03-18 criteria provided, single submitter clinical testing

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