ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.551A>C (p.Asp184Ala)

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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 RCV002351753 SCV002648691 uncertain significance Hereditary cancer-predisposing syndrome 2024-07-05 criteria provided, single submitter clinical testing The p.D184A variant (also known as c.551A>C), located in coding exon 5 of the BRIP1 gene, results from an A to C substitution at nucleotide position 551. The aspartic acid at codon 184 is replaced by alanine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.

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