Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000586249 | SCV000699121 | likely pathogenic | Hereditary breast ovarian cancer syndrome | 2016-04-11 | criteria provided, single submitter | clinical testing | Variant summary: The c.4211delT variant results in a premature termination codon, predicted to cause a truncated or absent BRCA1 protein, which is a commonly known mechanism for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory (c.4222C>T, p.Gln1408X; c.4243delG, p.Glu1415fs). The variant is absent from the large, broad ExAC control population. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical laboratories; nor evaluated for functional impact by in vivo/vitro studies. Therefore, this variant has been classified as Likely Pathogenic. |