ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.2347G>C (p.Val783Leu)

dbSNP: rs1566226546
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000690022 SCV000817698 uncertain significance Hereditary breast ovarian cancer syndrome 2018-05-22 criteria provided, single submitter clinical testing This sequence change replaces valine with leucine at codon 783 of the BRCA2 protein (p.Val783Leu). The valine residue is moderately conserved and there is a small physicochemical difference between valine and leucine. This variant is not present in population databases (ExAC no frequency). 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 BRCA2-related disease.
University of Washington Department of Laboratory Medicine, University of Washington RCV003157833 SCV003848245 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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