ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.3458del (p.Leu1153fs)

dbSNP: rs1567791573
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001220321 SCV001392301 pathogenic Hereditary breast ovarian cancer syndrome 2019-08-20 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant has been observed in an individual affected with epithelial ovarian cancer (PMID: 28176296). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Leu1153Argfs*2) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product.

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