ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.2221G>C (p.Val741Leu)

dbSNP: rs1308293137
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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 RCV001058467 SCV001223041 uncertain significance Familial cancer of breast; Fanconi anemia complementation group J 2023-05-11 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. 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 BRIP1 protein function. ClinVar contains an entry for this variant (Variation ID: 853622). This variant has not been reported in the literature in individuals affected with BRIP1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 741 of the BRIP1 protein (p.Val741Leu).
Ambry Genetics RCV002429675 SCV002730200 uncertain significance Hereditary cancer-predisposing syndrome 2020-05-13 criteria provided, single submitter clinical testing The p.V741L variant (also known as c.2221G>C), located in coding exon 14 of the BRIP1 gene, results from a G to C substitution at nucleotide position 2221. The valine at codon 741 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species, and leucine is the reference amino acid in other 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.

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