ClinVar Miner

Submissions for variant NM_001301365.1(LYST):c.925C>T (p.Arg309Ter)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000192042 SCV000820687 pathogenic Chédiak-Higashi syndrome 2018-08-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg309*) in the LYST gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with Chediak-Higashi syndrome (PMID: 24072239). ClinVar contains an entry for this variant (Variation ID: 180621). Loss-of-function variants in LYST are known to be pathogenic (PMID: 9215679, 11857544). For these reasons, this variant has been classified as Pathogenic.
GeneReviews RCV000192042 SCV000207376 pathogenic Chédiak-Higashi syndrome 2015-01-15 no assertion criteria provided literature only
Department of Genetics,Sultan Qaboos University Hospital, Oman RCV000192042 SCV000891530 pathogenic Chédiak-Higashi syndrome 2017-12-30 no assertion criteria provided curation

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