ClinVar Miner

Submissions for variant NM_000195.5(HPS1):c.2056C>T (p.Gln686Ter)

dbSNP: rs1591002808
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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 RCV002538361 SCV003439651 pathogenic not provided 2022-09-06 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: 690342). This sequence change creates a premature translational stop signal (p.Gln686*) in the HPS1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 15 amino acid(s) of the HPS1 protein. This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Hermansky-Pudlak syndrome (PMID: 26575419). It has also been observed to segregate with disease in related individuals.
University of Washington Center for Mendelian Genomics, University of Washington RCV000851267 SCV000993523 likely pathogenic Hermansky-Pudlak syndrome 2015-12-18 no assertion criteria provided research

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