ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.2758G>C (p.Val920Leu)

dbSNP: rs80357361
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001524777 SCV001734728 uncertain significance Hereditary cancer-predisposing syndrome 2020-11-02 criteria provided, single submitter clinical testing This missense variant replaces valine with leucine at codon 920 of the BRCA1 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
University of Washington Department of Laboratory Medicine, University of Washington RCV001524777 SCV003849368 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).
Ambry Genetics RCV001524777 SCV004004308 uncertain significance Hereditary cancer-predisposing syndrome 2023-03-19 criteria provided, single submitter clinical testing The p.V920L variant (also known as c.2758G>C), located in coding exon 9 of the BRCA1 gene, results from a G to C substitution at nucleotide position 2758. The valine at codon 920 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is conserved. 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.

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