ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.3575A>T (p.Asp1192Val)

dbSNP: rs1555572525
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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 RCV000565825 SCV000666266 uncertain significance Hereditary cancer-predisposing syndrome 2023-07-26 criteria provided, single submitter clinical testing The p.D1192V variant (also known as c.3575A>T), located in coding exon 19 of the BRIP1 gene, results from an A to T substitution at nucleotide position 3575. The aspartic acid at codon 1192 is replaced by valine, an amino acid with highly dissimilar properties. This amino acid position is not well 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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