ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.162G>C (p.Gln54His)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001207860 SCV001379227 uncertain significance Hereditary breast and ovarian cancer syndrome 2019-09-03 criteria provided, single submitter clinical testing This sequence change replaces glutamine with histidine at codon 54 of the BRCA1 protein (p.Gln54His). The glutamine residue is moderately conserved and there is a small physicochemical difference between glutamine and histidine. This variant is present in population databases (rs772226744, ExAC 0.006%). 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 RCV001072586 SCV001237999 not provided Breast-ovarian cancer, familial 1 no assertion provided in vitro

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