Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000192046 | SCV004280665 | pathogenic | Chédiak-Higashi syndrome | 2023-08-25 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 180625). This premature translational stop signal has been observed in individual(s) with Chediak-Higashi syndrome (PMID: 21878672). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change creates a premature translational stop signal (p.Arg1836*) 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). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic. |
Gene |
RCV000192046 | SCV000207380 | not provided | Chédiak-Higashi syndrome | no assertion provided | literature only |