ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.578_585delinsAA (p.Val193_Leu195delinsGlu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003382368 SCV004098137 uncertain significance Hereditary cancer-predisposing syndrome 2023-08-01 criteria provided, single submitter clinical testing The c.578_585delTAAAACTCinsAA variant (also known as p.V193_L195delinsE), located in coding exon 5 of the BRIP1 gene, results from an in-frame deletion of TAAAACTC and insertion of AA at nucleotide positions 578 to 585. This results in the substitution of the valine, lysine, and leucine residues for a glutamic acid residue at codon 193, an amino acid with highly similar properties. This amino acid region is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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