ClinVar Miner

Submissions for variant NM_000081.4(LYST):c.2832del (p.Ser945fs)

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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 RCV001388507 SCV001589510 pathogenic Chédiak-Higashi syndrome 2020-08-26 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in LYST are known to be pathogenic (PMID: 9215679, 11857544). This variant has been observed in individual(s) with clinical features of Chediak-Higashi syndrome (Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ser945Leufs*29) in the LYST gene. It is expected to result in an absent or disrupted protein product.

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