ClinVar Miner

Submissions for variant NM_000081.4(LYST):c.7135dup (p.Leu2379fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003469982 SCV004191141 likely pathogenic Chédiak-Higashi syndrome 2024-02-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003469982 SCV004474755 pathogenic Chédiak-Higashi syndrome 2023-02-16 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with LYST-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Leu2379Profs*30) 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).

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