Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000132263 | SCV000187346 | uncertain significance | Hereditary cancer-predisposing syndrome | 2014-03-27 | criteria provided, single submitter | clinical testing | The p.P1150L variant (also known as c.3449C>T or 3568C>T), located in coding exon 9 of the BRCA1 gene, results from a C to T substitution at nucleotide position 3449. The proline at codon 1150 is replaced by leucine, an amino acid with similar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project.To date, this alteration has been detected with an allele frequency of approximately 0.002% (greater than 42000 alleles tested) in our clinical cohort (includes this individual). Based on protein sequence alignment, thisamino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive.Since supporting evidence is limited at this time, the clinical significance ofp.P1150Lremains unclear. |
| Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001283895 | SCV001469381 | uncertain significance | not provided | 2020-08-12 | criteria provided, single submitter | clinical testing | |
| University of Washington Department of Laboratory Medicine, |
RCV000132263 | SCV003848500 | likely benign | Hereditary cancer-predisposing syndrome | 2023-03-23 | criteria provided, single submitter | curation | Missense variant in a coldspot region where missense variants are very unlikely to be pathogenic (PMID:31911673). |