Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000525249 | SCV000635931 | likely benign | Hereditary breast ovarian cancer syndrome | 2023-08-08 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001021587 | SCV001183222 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-05-10 | criteria provided, single submitter | clinical testing | The p.S1330C variant (also known as c.3988A>T), located in coding exon 9 of the BRCA1 gene, results from an A to T substitution at nucleotide position 3988. The serine at codon 1330 is replaced by cysteine, an amino acid with dissimilar properties. This amino acid position is poorly conserved in available vertebrate species. 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. |
University of Washington Department of Laboratory Medicine, |
RCV001021587 | SCV003849221 | 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). |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV003478150 | SCV004219385 | uncertain significance | not provided | 2023-05-07 | criteria provided, single submitter | clinical testing | It has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). In a large case-control study, the variant has only been reported in an affected individual with breast cancer (PMID: 33471991 (2021), see also LOVD (http://databases.lovd.nl/shared/genes/BRCA1)). Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded conflicting predictions that this variant is benign or damaging. Based on the available information, we are unable to determine the clinical significance of this variant. |