ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.2404G>T (p.Val802Leu)

dbSNP: rs876660885
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000218931 SCV000278666 uncertain significance Hereditary cancer-predisposing syndrome 2023-07-03 criteria provided, single submitter clinical testing The p.V802L variant (also known as c.2404G>T), located in coding exon 9 of the BRCA1 gene, results from a G to T substitution at nucleotide position 2404. The valine at codon 802 is replaced by leucine, an amino acid with highly similar 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.
Color Diagnostics, LLC DBA Color Health RCV000218931 SCV000904805 uncertain significance Hereditary cancer-predisposing syndrome 2019-04-12 criteria provided, single submitter clinical testing
Invitae RCV001036169 SCV001199520 uncertain significance Hereditary breast ovarian cancer syndrome 2023-09-10 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 802 of the BRCA1 protein (p.Val802Leu). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 234150). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt BRCA1 protein function. 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.
Sema4, Sema4 RCV000218931 SCV002538118 uncertain significance Hereditary cancer-predisposing syndrome 2021-09-15 criteria provided, single submitter curation
University of Washington Department of Laboratory Medicine, University of Washington RCV000218931 SCV003847694 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).

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