ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.5224A>C (p.Asn1742His)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001225940 SCV001398234 uncertain significance Hereditary breast and ovarian cancer syndrome 2019-09-05 criteria provided, single submitter clinical testing This sequence change replaces asparagine with histidine at codon 1742 of the BRCA1 protein (p.Asn1742His). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and histidine. 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 conditions. 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 RCV001077049 SCV001242912 not provided Breast-ovarian cancer, familial 1 no assertion provided in vitro

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