ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.3611G>C (p.Ser1204Thr)

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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 RCV004952550 SCV005547718 uncertain significance Hereditary cancer-predisposing syndrome 2024-09-19 criteria provided, single submitter clinical testing The p.S1204T variant (also known as c.3611G>C), located in coding exon 19 of the BRIP1 gene, results from a G to C substitution at nucleotide position 3611. The serine at codon 1204 is replaced by threonine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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