ClinVar Miner

Submissions for variant NM_032383.5(HPS3):c.2471C>A (p.Ser824Ter)

dbSNP: rs373037058
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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 RCV001247663 SCV001421099 pathogenic not provided 2019-09-28 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in HPS3 are known to be pathogenic (PMID: 11590544). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with HPS3-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ser824*) in the HPS3 gene. It is expected to result in an absent or disrupted protein product.
Baylor Genetics RCV003473834 SCV004200024 likely pathogenic Hermansky-Pudlak syndrome 3 2023-06-23 criteria provided, single submitter clinical testing

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