Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000166958 | SCV000217779 | uncertain significance | Hereditary cancer-predisposing syndrome | 2018-03-15 | criteria provided, single submitter | clinical testing | The p.S1301G variant (also known as c.3901A>G and 4020A>G), located in coding exon 9 of the BRCA1 gene, results from an A to G substitution at nucleotide position 3901. The serine at codon 1301 is replaced by glycine, an amino acid with similar properties. This amino acid position is 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 p.S1301G remains unclear. |
Invitae | RCV000808508 | SCV000948618 | uncertain significance | Hereditary breast ovarian cancer syndrome | 2018-10-01 | 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 missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with BRCA1-related disease. ClinVar contains an entry for this variant (Variation ID: 187243). This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with glycine at codon 1301 of the BRCA1 protein (p.Ser1301Gly). The serine residue is moderately conserved and there is a small physicochemical difference between serine and glycine. |
University of Washington Department of Laboratory Medicine, |
RCV000166958 | SCV003849505 | 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). |