ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.1796C>A (p.Ala599Asp)

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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 RCV003382377 SCV004098153 uncertain significance Hereditary cancer-predisposing syndrome 2023-08-25 criteria provided, single submitter clinical testing The p.A599D variant (also known as c.1796C>A), located in coding exon 12 of the BRIP1 gene, results from a C to A substitution at nucleotide position 1796. The alanine at codon 599 is replaced by aspartic acid, an amino acid with dissimilar properties. This amino acid position is conserved. 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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