ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.1102C>A (p.Pro368Thr)

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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 RCV002455744 SCV002739302 uncertain significance Hereditary cancer-predisposing syndrome 2021-10-29 criteria provided, single submitter clinical testing The p.P368T variant (also known as c.1102C>A), located in coding exon 7 of the BRIP1 gene, results from a C to A substitution at nucleotide position 1102. The proline at codon 368 is replaced by threonine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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