Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
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. |
Prevention |
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. |