Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000501657 | SCV000596646 | pathogenic | Griscelli syndrome type 2 | 2016-06-27 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000501657 | SCV002165795 | pathogenic | Griscelli syndrome type 2 | 2022-02-09 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the RAB27A protein in which other variant(s) (p.Ala87Pro) have been determined to be pathogenic (PMID: 16278825, 25544030, 26880764). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 436459). Disruption of the initiator codon has been observed in individual(s) with Griscelli syndrome type 2 (PMID: 32965739). This variant is not present in population databases (gnomAD no frequency). This sequence change affects the initiator methionine of the RAB27A mRNA. The next in-frame methionine is located at codon 93. |
Genome Diagnostics Laboratory, |
RCV002263710 | SCV002542922 | uncertain significance | Autoinflammatory syndrome | 2016-12-12 | criteria provided, single submitter | clinical testing |