ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.4552C>G (p.Gln1518Glu) (rs80356881)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000204694 SCV000259495 uncertain significance Hereditary breast and ovarian cancer syndrome 2019-04-30 criteria provided, single submitter clinical testing This sequence change replaces glutamine with glutamic acid at codon 1518 of the BRCA1 protein (p.Gln1518Glu). The glutamine residue is moderately conserved and there is a small physicochemical difference between glutamine and glutamic acid. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual with a personal and/or family history of breast cancer (PMID: 26845104). ClinVar contains an entry for this variant (Variation ID: 219563). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
University of Washington Department of Laboratory Medicine, University of Washington RCV000210208 SCV000266157 uncertain significance Breast-ovarian cancer, familial 1 2015-11-20 criteria provided, single submitter clinical testing
Color RCV000777929 SCV000913983 uncertain significance Hereditary cancer-predisposing syndrome 2019-05-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV000777929 SCV001184450 uncertain significance Hereditary cancer-predisposing syndrome 2018-03-01 criteria provided, single submitter clinical testing Insufficient evidence

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