ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.155T>C (p.Leu52Pro) (rs1060502346)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000467390 SCV000549370 uncertain significance Hereditary breast and ovarian cancer syndrome 2019-10-25 criteria provided, single submitter clinical testing This sequence change replaces leucine with proline at codon 52 of the BRCA1 protein (p.Leu52Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline. 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: 409340). This variant has been reported to have conflicting or insufficient data to determine the effect on 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 RCV000574272 SCV000660958 uncertain significance Hereditary cancer-predisposing syndrome 2016-11-18 criteria provided, single submitter clinical testing In silico models in agreement (deleterious) and/or completely conserved position in appropriate species;Insufficient evidence
Brotman Baty Institute,University of Washington RCV001075937 SCV001241596 not provided Breast-ovarian cancer, familial 1 no assertion provided in vitro

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