ClinVar Miner

Submissions for variant NM_000465.4(BARD1):c.1360C>A (p.Pro454Thr)

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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 RCV003176963 SCV003854327 uncertain significance Hereditary cancer-predisposing syndrome 2022-11-27 criteria provided, single submitter clinical testing The p.P454T variant (also known as c.1360C>A), located in coding exon 5 of the BARD1 gene, results from a C to A substitution at nucleotide position 1360. The proline at codon 454 is replaced by threonine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV003459794 SCV004217264 uncertain significance Familial cancer of breast 2023-05-25 criteria provided, single submitter clinical testing

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