ClinVar Miner

Submissions for variant NM_000465.4(BARD1):c.1538T>G (p.Leu513Ter)

dbSNP: rs2106076340
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001967128 SCV002205309 pathogenic Familial cancer of breast 2021-07-27 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with BARD1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Leu513*) in the BARD1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BARD1 are known to be pathogenic (PMID: 20077502, 21344236).
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001967128 SCV002762789 uncertain significance Familial cancer of breast 2022-12-09 criteria provided, single submitter research PVS1, PM2_SUP
Myriad Genetics, Inc. RCV001967128 SCV004044604 pathogenic Familial cancer of breast 2023-05-23 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation.

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