ClinVar Miner

Submissions for variant NM_000081.4(LYST):c.192+1G>A

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002875715 SCV003228149 pathogenic Chédiak-Higashi syndrome 2022-11-22 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. Disruption of this splice site has been observed in individual(s) with clinical features of Chediak-Higashi syndrome (Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 3 of the LYST gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in LYST are known to be pathogenic (PMID: 9215679, 11857544).
Baylor Genetics RCV002875715 SCV004191152 likely pathogenic Chédiak-Higashi syndrome 2023-05-15 criteria provided, single submitter clinical testing

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