ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.4814_4815insTATT (p.Leu1605fs)

dbSNP: rs2052403348
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001068859 SCV001233992 pathogenic Hereditary breast ovarian cancer syndrome 2022-08-29 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 862183). This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Leu1605Phefs*18) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584).
Mayo Clinic Laboratories, Mayo Clinic RCV001508810 SCV001715197 likely pathogenic not provided 2019-11-03 criteria provided, single submitter clinical testing PVS1, PM2
Revvity Omics, Revvity RCV001508810 SCV003824887 likely pathogenic not provided 2022-10-21 criteria provided, single submitter clinical testing

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