ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.1014A>C (p.Glu338Asp)

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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 RCV002333318 SCV002628089 uncertain significance Hereditary cancer-predisposing syndrome 2021-04-29 criteria provided, single submitter clinical testing The p.E338D variant (also known as c.1014A>C), located in coding exon 7 of the BRIP1 gene, results from an A to C substitution at nucleotide position 1014. The glutamic acid at codon 338 is replaced by aspartic acid, an amino acid with highly similar properties. This amino acid position is highly 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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