Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001387346 | SCV001587954 | pathogenic | Griscelli syndrome type 2 | 2022-03-13 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1074135). This variant is also known as 400delAA. This premature translational stop signal has been observed in individual(s) with Griscelli syndrome (PMID: 10835631). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Lys134Glufs*2) in the RAB27A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RAB27A are known to be pathogenic (PMID: 10835631, 23160464). |
Genome Diagnostics Laboratory, |
RCV002264291 | SCV002542926 | likely pathogenic | Autoinflammatory syndrome | 2021-12-23 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV001387346 | SCV002810986 | pathogenic | Griscelli syndrome type 2 | 2022-04-12 | criteria provided, single submitter | clinical testing |