ClinVar Miner

Submissions for variant NM_000195.5(HPS1):c.1473dup (p.Ser492fs)

dbSNP: rs1278834481
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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 RCV001992670 SCV002224717 pathogenic not provided 2021-08-26 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with HPS1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ser492Glnfs*90) in the HPS1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in HPS1 are known to be pathogenic (PMID: 12442288, 16185271).
Baylor Genetics RCV003475196 SCV004199965 likely pathogenic Hermansky-Pudlak syndrome 1 2023-01-07 criteria provided, single submitter clinical testing

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