ClinVar Miner

Submissions for variant NM_032383.5(HPS3):c.249_252del (p.Asn83fs)

dbSNP: rs770108122
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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 RCV001999921 SCV002235483 pathogenic not provided 2021-12-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn83Lysfs*9) 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). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with HPS3-related conditions. This variant is present in population databases (rs770108122, gnomAD 0.004%).
Baylor Genetics RCV003471135 SCV004192318 likely pathogenic Hermansky-Pudlak syndrome 3 2022-09-27 criteria provided, single submitter clinical testing

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