ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.257T>C (p.Leu86Pro)

dbSNP: rs2054683731
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003530148 SCV004311838 uncertain significance Hereditary breast ovarian cancer syndrome 2023-07-29 criteria provided, single submitter clinical testing 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. Experimental studies have shown that this missense change affects BRCA1 function (PMID: 30209399). Advanced modeling performed at Invitae incorporating data from internal and/or published experimental studies (PMID: 30209399) indicates that this missense variant is expected to disrupt BRCA1 function. ClinVar contains an entry for this variant (Variation ID: 865339). This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 86 of the BRCA1 protein (p.Leu86Pro).
Brotman Baty Institute, University of Washington RCV001072736 SCV001238170 not provided Breast-ovarian cancer, familial, susceptibility to, 1 no assertion provided in vitro

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