Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001753295 | SCV002007290 | uncertain significance | not provided | 2020-12-04 | criteria provided, single submitter | clinical testing | Not observed in large population cohorts (Lek 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Ambry Genetics | RCV002370308 | SCV002692224 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-07-05 | criteria provided, single submitter | clinical testing | The p.T324I variant (also known as c.971C>T), located in coding exon 7 of the BRIP1 gene, results from a C to T substitution at nucleotide position 971. The threonine at codon 324 is replaced by isoleucine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |