ClinVar Miner

Submissions for variant NM_000195.5(HPS1):c.355del (p.His119fs) (rs281865075)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001067590 SCV001232658 pathogenic not provided 2019-12-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.His119Thrfs*5) in the HPS1 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs281865075, ExAC 0.002%). This variant has been observed in individual(s) with Hermansky-Pudlak syndrome (PMID: 12442288). This variant is also known as c.561delC in the literature. ClinVar contains an entry for this variant (Variation ID: 21103). Loss-of-function variants in HPS1 are known to be pathogenic (PMID: 12442288, 16185271). For these reasons, this variant has been classified as Pathogenic.
GeneReviews RCV000020193 SCV000040528 pathologic Hermansky-Pudlak syndrome 1 2012-10-11 no assertion criteria provided curation Converted during submission to Pathogenic.

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