ClinVar Miner

Submissions for variant NM_000195.5(HPS1):c.1437C>A (p.Cys479Ter)

dbSNP: rs552340796
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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 RCV001051995 SCV001216180 pathogenic not provided 2023-02-21 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 848274). This variant has not been reported in the literature in individuals affected with HPS1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Cys479*) 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 RCV003467767 SCV004199927 likely pathogenic Hermansky-Pudlak syndrome 1 2023-09-30 criteria provided, single submitter clinical testing

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