ClinVar Miner

Submissions for variant NM_000465.4(BARD1):c.278A>G (p.Gln93Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002441386 SCV002747318 uncertain significance Hereditary cancer-predisposing syndrome 2023-12-23 criteria provided, single submitter clinical testing The p.Q93R variant (also known as c.278A>G), located in coding exon 3 of the BARD1 gene, results from an A to G substitution at nucleotide position 278. The glutamine at codon 93 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is not 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.
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University RCV003154071 SCV003843436 benign Ovarian cancer 2022-01-01 criteria provided, single submitter clinical testing

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