ClinVar Miner

Submissions for variant NM_000081.4(LYST):c.6187del (p.Arg2063fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001994749 SCV002228944 pathogenic Chédiak-Higashi syndrome 2021-10-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg2063Glyfs*4) in the LYST gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in LYST are known to be pathogenic (PMID: 9215679, 11857544). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with LYST-related conditions. For these reasons, this variant has been classified as Pathogenic.

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