ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.1430T>C (p.Leu477Ser)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002392064 SCV002702790 uncertain significance Hereditary cancer-predisposing syndrome 2022-07-10 criteria provided, single submitter clinical testing The p.L477S variant (also known as c.1430T>C), located in coding exon 9 of the BRIP1 gene, results from a T to C substitution at nucleotide position 1430. The leucine at codon 477 is replaced by serine, an amino acid with dissimilar properties. This amino acid position is conserved. 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.
Baylor Genetics RCV003464515 SCV004214702 uncertain significance Familial cancer of breast 2023-10-08 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003492761 SCV004240385 uncertain significance Breast and/or ovarian cancer 2022-12-19 criteria provided, single submitter clinical testing

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