ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.3218T>C (p.Ile1073Thr)

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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 RCV003382360 SCV004098123 uncertain significance Hereditary cancer-predisposing syndrome 2023-08-01 criteria provided, single submitter clinical testing The p.I1073T variant (also known as c.3218T>C), located in coding exon 19 of the BRIP1 gene, results from a T to C substitution at nucleotide position 3218. The isoleucine at codon 1073 is replaced by threonine, an amino acid with similar properties. This amino acid position is not well conserved in available 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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