ClinVar Miner

Submissions for variant NM_000081.4(LYST):c.11002G>T (p.Glu3668Ter)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001783622 SCV002017197 pathogenic Chédiak-Higashi syndrome 2021-05-21 criteria provided, single submitter clinical testing
Baylor Genetics RCV001783622 SCV004191164 pathogenic Chédiak-Higashi syndrome 2023-11-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001783622 SCV004292997 pathogenic Chédiak-Higashi syndrome 2024-12-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu3668*) 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 premature translational stop signal has been observed in individual(s) with Chediak-Higashi syndrome (PMID: 20368792). ClinVar contains an entry for this variant (Variation ID: 1323258). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV001783622 SCV005642546 pathogenic Chédiak-Higashi syndrome 2024-06-19 criteria provided, single submitter clinical testing

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