Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000548712 | SCV000651895 | pathogenic | BAP1-related tumor predisposition syndrome | 2023-12-22 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Trp196*) in the BAP1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BAP1 are known to be pathogenic (PMID: 21874000, 23684012). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with melanoma (PMID: 23684012). ClinVar contains an entry for this variant (Variation ID: 472707). For these reasons, this variant has been classified as Pathogenic. |
| Ambry Genetics | RCV003159904 | SCV003854257 | pathogenic | Hereditary cancer-predisposing syndrome | 2022-12-05 | criteria provided, single submitter | clinical testing | The p.W196* pathogenic mutation (also known as c.587G>A), located in coding exon 8 of the BAP1 gene, results from a G to A substitution at nucleotide position 587. This changes the amino acid from a tryptophan to a stop codon within coding exon 8. This alteration has been observed in at least one individual with a personal and/or family history that is consistent with BAP1-related disease (Ambry internal data). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. |