ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.5110T>C (p.Phe1704Leu) (rs1555578599)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000508654 SCV000605903 uncertain significance not specified 2016-11-21 criteria provided, single submitter clinical testing
Invitae RCV000637619 SCV000759085 uncertain significance Hereditary breast and ovarian cancer syndrome 2019-08-30 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with leucine at codon 1704 of the BRCA1 protein (p.Phe1704Leu). The phenylalanine residue is highly conserved and there is a small physicochemical difference between phenylalanine and leucine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BRCA1-related conditions. This variant has been reported to affect BRCA1 protein function (PMID: 30209399). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV001023565 SCV001185465 uncertain significance Hereditary cancer-predisposing syndrome 2019-11-01 criteria provided, single submitter clinical testing Insufficient evidence
Brotman Baty Institute,University of Washington RCV001072269 SCV001237621 not provided Breast-ovarian cancer, familial 1 no assertion provided in vitro

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