ClinVar Miner

Submissions for variant NM_000465.4(BARD1):c.825A>C (p.Leu275Phe)

dbSNP: rs2106110284
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Sema4, Sema4 RCV002258547 SCV002529656 uncertain significance Hereditary cancer-predisposing syndrome 2022-03-16 criteria provided, single submitter curation
Ambry Genetics RCV002258547 SCV005542499 uncertain significance Hereditary cancer-predisposing syndrome 2024-12-04 criteria provided, single submitter clinical testing The p.L275F variant (also known as c.825A>C), located in coding exon 4 of the BARD1 gene, results from an A to C substitution at nucleotide position 825. The leucine at codon 275 is replaced by phenylalanine, an amino acid with highly 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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