ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.4493del (p.Pro1498fs) (rs398122687)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000077148 SCV000300130 pathogenic Breast-ovarian cancer, familial 1 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000077148 SCV000325988 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000257896 SCV000591523 pathogenic Hereditary breast and ovarian cancer syndrome 2012-03-30 criteria provided, single submitter clinical testing
Invitae RCV000257896 SCV000758989 pathogenic Hereditary breast and ovarian cancer syndrome 2018-05-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro1498Leufs*7) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals in the Leiden Open-source Variation Database (PMID: 21520333). ClinVar contains an entry for this variant (Variation ID: 91631). Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000758832 SCV000887699 pathogenic not provided 2018-06-13 criteria provided, single submitter clinical testing
Color RCV001191623 SCV001359512 pathogenic Hereditary cancer-predisposing syndrome 2020-01-15 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000077148 SCV000108945 pathogenic Breast-ovarian cancer, familial 1 2007-03-22 no assertion criteria provided clinical testing

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