ClinVar Miner

Submissions for variant NM_000465.4(BARD1):c.277C>A (p.Gln93Lys)

dbSNP: rs876658571
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomics Laboratory, Virgen de la Arrixaca University Clinical Hospital RCV001580776 SCV001810153 uncertain significance Hereditary breast ovarian cancer syndrome criteria provided, single submitter clinical testing
Ambry Genetics RCV002440822 SCV002748224 uncertain significance Hereditary cancer-predisposing syndrome 2024-03-20 criteria provided, single submitter clinical testing The p.Q93K variant (also known as c.277C>A), located in coding exon 3 of the BARD1 gene, results from a C to A substitution at nucleotide position 277. The glutamine at codon 93 is replaced by lysine, an amino acid with 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. Based on the available evidence, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV003463053 SCV004217282 uncertain significance Familial cancer of breast 2023-05-01 criteria provided, single submitter clinical testing

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