ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.605T>C (p.Ile202Thr)

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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 RCV002358315 SCV002654637 uncertain significance Hereditary cancer-predisposing syndrome 2020-09-09 criteria provided, single submitter clinical testing The p.I202T variant (also known as c.605T>C), located in coding exon 5 of the BRIP1 gene, results from a T to C substitution at nucleotide position 605. The isoleucine at codon 202 is replaced by threonine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species, and threonine 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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