ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.1862A>C (p.Lys621Thr)

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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 RCV002414939 SCV002721914 uncertain significance Hereditary cancer-predisposing syndrome 2020-02-06 criteria provided, single submitter clinical testing The p.K621T variant (also known as c.1862A>C), located in coding exon 12 of the BRIP1 gene, results from an A to C substitution at nucleotide position 1862. The lysine at codon 621 is replaced by threonine, an amino acid with similar properties. This amino acid position is not 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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