ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.5200T>A (p.Phe1734Ile) (rs80356957)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000221287 SCV000276082 uncertain significance Hereditary cancer-predisposing syndrome 2015-05-26 criteria provided, single submitter clinical testing Insufficient or Conflicting Evidence
Invitae RCV000538997 SCV000636020 uncertain significance Hereditary breast and ovarian cancer syndrome 2019-05-02 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with isoleucine at codon 1734 of the BRCA1 protein (p.Phe1734Ile). The phenylalanine residue is highly conserved and there is a small physicochemical difference between phenylalanine and isoleucine. 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 disease. ClinVar contains an entry for this variant (Variation ID: 232047). 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.
Color RCV000221287 SCV001341303 uncertain significance Hereditary cancer-predisposing syndrome 2020-03-02 criteria provided, single submitter clinical testing
Brotman Baty Institute,University of Washington RCV001077019 SCV001242880 not provided Breast-ovarian cancer, familial 1 no assertion provided in vitro

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