Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000006356 | SCV001207071 | pathogenic | Griscelli syndrome type 2 | 2023-09-17 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln118*) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Griscelli syndrome (PMID: 15163896, 23160464). ClinVar contains an entry for this variant (Variation ID: 5990). For these reasons, this variant has been classified as Pathogenic. |
Laboratorio de Genetica e Diagnostico Molecular, |
RCV002251884 | SCV002523449 | pathogenic | See cases | 2020-01-05 | criteria provided, single submitter | clinical testing | ACMG classification criteria: PVS1, PS4, PM2, PM3 |
OMIM | RCV000006356 | SCV000026538 | pathogenic | Griscelli syndrome type 2 | 2004-07-01 | no assertion criteria provided | literature only | |
Al Jalila Children's Genomics Center, |
RCV001778648 | SCV002014783 | risk factor | Multisystem inflammatory syndrome in children | 2021-11-14 | no assertion criteria provided | research |