ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.3172C>G (p.Leu1058Val)

dbSNP: rs2061317781
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001224194 SCV001396378 uncertain significance Familial cancer of breast; Fanconi anemia complementation group J 2019-06-13 criteria provided, single submitter clinical testing This sequence change replaces leucine with valine at codon 1058 of the BRIP1 protein (p.Leu1058Val). The leucine residue is weakly conserved and there is a small physicochemical difference between leucine and valine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BRIP1-related conditions. 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. 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.

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