ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.407C>T (p.Ala136Val)

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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 RCV004519847 SCV005029279 uncertain significance Hereditary cancer-predisposing syndrome 2023-11-27 criteria provided, single submitter clinical testing The p.A136V variant (also known as c.407C>T), located in coding exon 4 of the BRIP1 gene, results from a C to T substitution at nucleotide position 407. The alanine at codon 136 is replaced by valine, an amino acid with similar properties. This amino acid position is 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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