ClinVar Miner

Submissions for variant NM_000081.4(LYST):c.1758_1761dup (p.Pro588fs)

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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 RCV003523828 SCV004314608 pathogenic Chédiak-Higashi syndrome 2023-07-31 criteria provided, single submitter clinical testing 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.Pro588Glyfs*14) 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). For these reasons, this variant has been classified as Pathogenic.
PreventionGenetics, part of Exact Sciences RCV003901207 SCV004710793 likely pathogenic LYST-related disorder 2024-01-04 no assertion criteria provided clinical testing The LYST c.1758_1761dupGGAT variant is predicted to result in a frameshift and premature protein termination (p.Pro588Glyfs*14). To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Frameshift variants in LYST are expected to be pathogenic. This variant is interpreted as likely pathogenic.

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