Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000589182 | SCV000698891 | likely pathogenic | Hereditary breast ovarian cancer syndrome | 2016-06-20 | criteria provided, single submitter | clinical testing | Variant summary: The BRCA1 c.1825_1829delAATAG (p.Asn609Alafs) variant results in a premature termination codon, predicted to cause a truncated or absent BRCA1 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 (e.g. c.1874_1877dupTAGT (p.Val627fs), c.1952dupA (p.Lys652fs), and c.1953_1956delGAAA (p.Lys653fs)). The variant of interest was not observed in controls (ExAC, 1000 Gs or ESP), nor has it been, to our knowledge, reported in affected individuals via publications and/or reputable databases/clinical laboratories. Therefore, due to the nature of this variant, it has been classified as Likely Pathogenic until additional information becomes available. |