ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.98T>A (p.Leu33His)

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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 RCV004952581 SCV005553039 uncertain significance Hereditary cancer-predisposing syndrome 2024-10-18 criteria provided, single submitter clinical testing The p.L33H variant (also known as c.98T>A), located in coding exon 2 of the BRIP1 gene, results from a T to A substitution at nucleotide position 98. The leucine at codon 33 is replaced by histidine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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