Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000649780 | SCV000771614 | pathogenic | BAP1-related tumor predisposition syndrome | 2024-01-19 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Glu198*) 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 BAP1-related conditions (PMID: 26154183). ClinVar contains an entry for this variant (Variation ID: 539909). For these reasons, this variant has been classified as Pathogenic. |
Ambry Genetics | RCV002358868 | SCV002649915 | pathogenic | Hereditary cancer-predisposing syndrome | 2019-02-12 | criteria provided, single submitter | clinical testing | The p.E198* pathogenic mutation (also known as c.592G>T), located in coding exon 8 of the BAP1 gene, results from a G to T substitution at nucleotide position 592. This changes the amino acid from a glutamic acid to a stop codon within coding exon 8. This alteration was seen in a patient with multiple cutaneous melanomas and dysplastic nevi and a family history of lung adenocarcinoma in a first-degree relative (Gerami P et al. JAMA Dermatol, 2015 Nov;151:1235-9). In addition to the clinical data presented in the literature, 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. |
Myriad Genetics, |
RCV000649780 | SCV004187412 | pathogenic | BAP1-related tumor predisposition syndrome | 2023-07-21 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation. |