Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001047143 | SCV001211080 | uncertain significance | Hereditary breast ovarian cancer syndrome | 2020-06-07 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has been reported not to substantially affect BRCA1 protein function (PMID: 30209399). This variant has not been reported in the literature in individuals with BRCA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 844324). This variant is present in population databases (rs771606902, ExAC 0.01%). This sequence change replaces methionine with valine at codon 1827 of the BRCA1 protein (p.Met1827Val). The methionine residue is moderately conserved and there is a small physicochemical difference between methionine and valine. |
Ambry Genetics | RCV002348376 | SCV002648179 | uncertain significance | Hereditary cancer-predisposing syndrome | 2020-03-02 | criteria provided, single submitter | clinical testing | The p.M1827V variant (also known as c.5479A>G), located in coding exon 22 of the BRCA1 gene, results from an A to G substitution at nucleotide position 5479. The methionine at codon 1827 is replaced by valine, an amino acid with highly similar properties. This amino acid position is not well 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. |
Brotman Baty Institute, |
RCV001072218 | SCV001237559 | not provided | Breast-ovarian cancer, familial, susceptibility to, 1 | no assertion provided | in vitro |