ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.245T>G (p.Leu82Arg)

dbSNP: rs2054687973
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001230339 SCV001402814 uncertain significance Hereditary breast ovarian cancer syndrome 2019-09-25 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with BRCA1-related conditions. 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. This variant has been reported to affect BRCA1 protein function (PMID: 30209399, 25823446). This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with arginine at codon 82 of the BRCA1 protein (p.Leu82Arg). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and arginine.
Brotman Baty Institute, University of Washington RCV001076045 SCV001241722 not provided Breast-ovarian cancer, familial, susceptibility to, 1 no assertion provided in vitro

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