ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.3574G>T (p.Asp1192Tyr)

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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 RCV002460263 SCV002618052 uncertain significance Hereditary cancer-predisposing syndrome 2021-12-11 criteria provided, single submitter clinical testing The p.D1192Y variant (also known as c.3574G>T), located in coding exon 19 of the BRIP1 gene, results from a G to T substitution at nucleotide position 3574. The aspartic acid at codon 1192 is replaced by tyrosine, an amino acid with highly dissimilar properties. This amino acid position is conserved. 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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