ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.5311C>T (p.Pro1771Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001066378 SCV001231385 uncertain significance Hereditary breast and ovarian cancer syndrome 2019-03-15 criteria provided, single submitter clinical testing This sequence change replaces proline with serine at codon 1771 of the BRCA1 protein (p.Pro1771Ser). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and serine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with breast cancer (PMID: 28664506). 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 RCV001077176 SCV001243061 not provided Breast-ovarian cancer, familial 1 no assertion provided in vitro

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