ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.5519A>C (p.Asp1840Ala)

dbSNP: rs2050874260
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001067559 SCV001232626 uncertain significance Hereditary breast ovarian cancer syndrome 2019-12-11 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. This variant has been reported not to substantially affect BRCA1 protein function (PMID: 30209399). This variant has not been reported in the literature in individuals with BRCA1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces aspartic acid with alanine at codon 1840 of the BRCA1 protein (p.Asp1840Ala). The aspartic acid residue is highly conserved and there is a moderate physicochemical difference between aspartic acid and alanine.
Brotman Baty Institute, University of Washington RCV001076348 SCV001242079 not provided Breast-ovarian cancer, familial, susceptibility to, 1 no assertion provided in vitro

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