ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.2608C>T (p.His870Tyr)

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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 RCV003213892 SCV003911422 uncertain significance Hereditary cancer-predisposing syndrome 2023-02-22 criteria provided, single submitter clinical testing The p.H870Y variant (also known as c.2608C>T), located in coding exon 18 of the BRIP1 gene, results from a C to T substitution at nucleotide position 2608. The histidine at codon 870 is replaced by tyrosine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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