Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000935974 | SCV001081733 | likely benign | BAP1-related tumor predisposition syndrome | 2023-10-03 | criteria provided, single submitter | clinical testing | |
| Illumina Laboratory Services, |
RCV000935974 | SCV001307705 | uncertain significance | BAP1-related tumor predisposition syndrome | 2018-01-13 | 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease. |
| Color Diagnostics, |
RCV001182554 | SCV001348027 | uncertain significance | Hereditary cancer-predisposing syndrome | 2020-10-20 | criteria provided, single submitter | clinical testing | This variant causes a C>T nucleotide substitution at the -4 position of intron 7 of the BAP1 gene. To our knowledge, functional studies have not been performed for this variant. This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance. |
| Ambry Genetics | RCV001182554 | SCV002647424 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-09-21 | criteria provided, single submitter | clinical testing | The c.581-4C>T intronic variant results from a C to T substitution 4 nucleotides upstream from coding exon 8 in the BAP1 gene. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Center for Genomic Medicine, |
RCV003320771 | SCV004024931 | likely benign | not specified | 2023-08-15 | criteria provided, single submitter | clinical testing |