ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.898G>A (p.Glu300Lys)

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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 RCV002376285 SCV002683820 uncertain significance Hereditary cancer-predisposing syndrome 2020-04-06 criteria provided, single submitter clinical testing The p.E300K variant (also known as c.898G>A), located in coding exon 6 of the BRIP1 gene, results from a G to A substitution at nucleotide position 898. The glutamic acid at codon 300 is replaced by lysine, an amino acid with 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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