ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.1046C>G (p.Ala349Gly)

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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 RCV004517822 SCV005029121 uncertain significance Hereditary cancer-predisposing syndrome 2023-10-13 criteria provided, single submitter clinical testing The p.A349G variant (also known as c.1046C>G), located in coding exon 7 of the BRIP1 gene, results from a C to G substitution at nucleotide position 1046. The alanine at codon 349 is replaced by glycine, an amino acid with similar properties. This amino acid position is 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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