ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.55T>C (p.Tyr19His)

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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 RCV003382372 SCV004098145 uncertain significance Hereditary cancer-predisposing syndrome 2023-08-26 criteria provided, single submitter clinical testing The p.Y19H variant (also known as c.55T>C), located in coding exon 1 of the BRIP1 gene, results from a T to C substitution at nucleotide position 55. The tyrosine at codon 19 is replaced by histidine, an amino acid with similar properties. This amino acid position is poorly 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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