ClinVar Miner

Submissions for variant NM_032383.5(HPS3):c.1385C>A (p.Ser462Ter)

dbSNP: rs1330496818
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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 RCV001063606 SCV001228461 pathogenic not provided 2023-07-17 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.0009%). 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: 857848). For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Ser462*) 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 RCV003467820 SCV004192309 likely pathogenic Hermansky-Pudlak syndrome 3 2024-02-20 criteria provided, single submitter clinical testing

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