ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.1870T>C (p.Ser624Pro)

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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 RCV002415106 SCV002723508 uncertain significance Hereditary cancer-predisposing syndrome 2020-07-13 criteria provided, single submitter clinical testing The p.S624P variant (also known as c.1870T>C), located in coding exon 12 of the BRIP1 gene, results from a T to C substitution at nucleotide position 1870. The serine at codon 624 is replaced by proline, 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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