ClinVar Miner

Submissions for variant NM_000195.5(HPS1):c.972del (p.Met325fs) (rs281865082)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001058424 SCV001222992 pathogenic not provided 2019-12-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Met325Trpfs*6) in the HPS1 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs281865082, ExAC 0.1%). This variant has been observed to segregate with Hermansky Pudlak syndrome (HSP) in a family and has also been observed in several individuals affected with HSP (PMID: 27593200, 19334085). ClinVar contains an entry for this variant (Variation ID: 5280). Loss-of-function variants in HPS1 are known to be pathogenic (PMID: 12442288, 16185271). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000005598 SCV000025780 pathogenic Hermansky-Pudlak syndrome 1 1998-03-01 no assertion criteria provided literature only
GeneReviews RCV000005598 SCV000040538 pathologic Hermansky-Pudlak syndrome 1 2012-10-11 no assertion criteria provided curation Converted during submission to Pathogenic.

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