Total submissions: 7
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Center for Pediatric Genomic Medicine, |
RCV000224304 | SCV000280851 | uncertain significance | not provided | 2015-06-02 | criteria provided, single submitter | clinical testing | Converted during submission to Uncertain significance. |
| Invitae | RCV001027844 | SCV001038438 | likely benign | Griscelli syndrome type 2 | 2024-01-26 | criteria provided, single submitter | clinical testing | |
| Center for Genomics, |
RCV001027844 | SCV001190464 | uncertain significance | Griscelli syndrome type 2 | 2021-12-22 | criteria provided, single submitter | clinical testing | RAB27A NM_004580.4 exon6 p.Arg187Gln (c.560G>A): This variant has been reported in the literature in the heterozygous state in at least two individuals affected by refractory hemophagocytic lymphohistiocytosis, with no second variant in RAB27A identified (Zhao 2019 PMID:31164711). This variant is also present in 0.6% (137/19954) of East Asian alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/15-55497811-C-T) and is present in ClinVar (Variation ID:235346). Computational predictive tools for this variant are unclear. Splice prediction tools suggest that this variant may affect splicing. However, further studies are needed to understand its impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain. |
| Illumina Laboratory Services, |
RCV001027844 | SCV001279918 | likely benign | Griscelli syndrome type 2 | 2018-01-12 | criteria provided, single submitter | clinical testing | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease. |
| Genome Diagnostics Laboratory, |
RCV002262831 | SCV002542935 | uncertain significance | Autoinflammatory syndrome | 2020-04-01 | criteria provided, single submitter | clinical testing | |
| Revvity Omics, |
RCV001027844 | SCV003810449 | uncertain significance | Griscelli syndrome type 2 | 2021-11-10 | criteria provided, single submitter | clinical testing | |
| Prevention |
RCV003401158 | SCV004104550 | uncertain significance | RAB27A-related disorder | 2022-12-21 | criteria provided, single submitter | clinical testing | The RAB27A c.560G>A variant is predicted to result in the amino acid substitution p.Arg187Gln. This variant has been reported in the heterozygous state in two individuals with hemophagocytic lymphohistiocytosis and one individual with a chronic active EBV infection of T/NK-cell type (Zhao Y et al. 2019. PubMed ID: 31164711; Table 2, Gao L et al. 2021. PubMed ID: 34185399; Table S1, Guan YQ et al. 2021. PubMed ID: 34170459). In both individuals with hemophagocytic lymphohistiocytosis, this variant was reported to be inherited, in one case from a parent who was noted to have impaired NK cytotoxicity function (Figure 2, Zhao Y et al. 2019. PubMed ID: 31164711; Table 2, Gao L et al. 2021. PubMed ID: 34185399). This variant is reported in 0.69% of alleles in individuals of East Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/15-55497811-C-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |