ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.1277T>A (p.Val426Asp)

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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 RCV002373995 SCV002687155 uncertain significance Hereditary cancer-predisposing syndrome 2019-10-24 criteria provided, single submitter clinical testing The p.V426D variant (also known as c.1277T>A), located in coding exon 8 of the BRIP1 gene, results from a T to A substitution at nucleotide position 1277. The valine at codon 426 is replaced by aspartic acid, an amino acid with highly dissimilar properties. This amino acid position is well 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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