Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000532011 | SCV000636087 | pathogenic | Hereditary breast ovarian cancer syndrome | 2020-11-21 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Glu33*) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BRCA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 462693). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. |
| Ambry Genetics | RCV002384092 | SCV002694981 | pathogenic | Hereditary cancer-predisposing syndrome | 2019-11-19 | criteria provided, single submitter | clinical testing | The p.E33* pathogenic mutation (also known as c.97G>T), located in coding exon 2 of the BRCA1 gene, results from a G to T substitution at nucleotide position 97. This changes the amino acid from a glutamic acid to a stop codon within coding exon 2. 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. |
| Brotman Baty Institute, |
RCV001076971 | SCV001242825 | not provided | Breast-ovarian cancer, familial, susceptibility to, 1 | no assertion provided | in vitro |