ClinVar Miner

Submissions for variant NM_000195.5(HPS1):c.1857+1G>A

dbSNP: rs2136102397
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001782262 SCV002016623 likely pathogenic Hermansky-Pudlak syndrome 1 2021-02-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002034595 SCV002267787 likely pathogenic not provided 2021-03-17 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. Disruption of this splice site has been observed in individual(s) with Hermansky-Pudlak syndrome (PMID: 29941477). This variant is not present in population databases (ExAC no frequency). This sequence change affects a donor splice site in intron 18 of the HPS1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in HPS1 are known to be pathogenic (PMID: 12442288, 16185271).
Baylor Genetics RCV001782262 SCV004199933 likely pathogenic Hermansky-Pudlak syndrome 1 2023-08-23 criteria provided, single submitter clinical testing

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