ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.582A>C (p.Lys194Asn)

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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 RCV002353191 SCV002650802 uncertain significance Hereditary cancer-predisposing syndrome 2021-04-16 criteria provided, single submitter clinical testing The p.K194N variant (also known as c.582A>C), located in coding exon 5 of the BRIP1 gene, results from an A to C substitution at nucleotide position 582. The lysine at codon 194 is replaced by asparagine, 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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