Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV000587539 | SCV000695160 | uncertain significance | not provided | 2016-03-21 | criteria provided, single submitter | clinical testing | Variant summary: BRCA2 c.8501C>G affects a non-conserved nucleotide, resulting in an amino acid change from Thr to Arg. 5/5 in-silico tools predict this variant to be damaging. This variant was not found in 121298 control chromosomes. The variant of interest, to our knowledge, has not been reported in affected individuals via publications and/or reputable databases/clinical laboratories; nor evaluated for functional impact by in vivo/vitro studies. Because of the absence of clinical information and the lack of functional studies, the variant was classified as a variant of uncertain significance (VUS) until additional information becomes available. |
| Ambry Genetics | RCV004024671 | SCV005030905 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-02-20 | criteria provided, single submitter | clinical testing | The p.T2834R variant (also known as c.8501C>G), located in coding exon 19 of the BRCA2 gene, results from a C to G substitution at nucleotide position 8501. The threonine at codon 2834 is replaced by arginine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this alteration remains unclear. |