ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.4949T>C (p.Met1650Thr) (rs778487856)

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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 RCV000510095 SCV000607977 uncertain significance Hereditary cancer-predisposing syndrome 2016-03-04 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
Color RCV000510095 SCV000909003 uncertain significance Hereditary cancer-predisposing syndrome 2019-04-12 criteria provided, single submitter clinical testing
Invitae RCV001211494 SCV001383035 uncertain significance Hereditary breast and ovarian cancer syndrome 2019-06-12 criteria provided, single submitter clinical testing This sequence change replaces methionine with threonine at codon 1650 of the BRCA1 protein (p.Met1650Thr). The methionine residue is moderately conserved and there is a moderate physicochemical difference between methionine and threonine. This variant is present in population databases (rs778487856, ExAC 0.02%). This variant has not been reported in the literature in individuals with BRCA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 441375). This variant has been reported not to substantially 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.
Brotman Baty Institute,University of Washington RCV001072873 SCV001238330 not provided Breast-ovarian cancer, familial 1 no assertion provided in vitro

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