Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV001280680 | SCV001467978 | likely pathogenic | Hereditary breast ovarian cancer syndrome | 2020-12-27 | criteria provided, single submitter | clinical testing | Variant summary: BRCA1 c.4008dupT (p.Asp1337X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant was absent in 251172 control chromosomes. To our knowledge, no occurrence of c.4008dupT in individuals affected with Hereditary Breast And Ovarian Cancer Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic. |
| Ambry Genetics | RCV002357072 | SCV002622134 | pathogenic | Hereditary cancer-predisposing syndrome | 2020-11-06 | criteria provided, single submitter | clinical testing | The c.4008dupT pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a duplication of T at nucleotide position 4008, causing a translational frameshift with a predicted alternate stop codon (p.D1337*). 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. |