ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.635G>A (p.Gly212Asp)

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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 RCV004602510 SCV005099524 uncertain significance Hereditary cancer-predisposing syndrome 2024-05-09 criteria provided, single submitter clinical testing The p.G212D variant (also known as c.635G>A), located in coding exon 6 of the BRIP1 gene, results from a G to A substitution at nucleotide position 635. The glycine at codon 212 is replaced by aspartic acid, 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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