ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.5260G>C (p.Glu1754Gln) (rs80357432)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000552413 SCV000636023 uncertain significance Hereditary breast and ovarian cancer syndrome 2019-08-19 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with glutamine at codon 1754 of the BRCA1 protein (p.Glu1754Gln). The glutamic acid residue is moderately conserved and there is a small physicochemical difference between glutamic acid and glutamine. This variant is present in population databases (rs80357432, ExAC 0.02%) but has not been reported in the literature in individuals with a BRCA1-related disease. 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. In summary, this variant is a rare missense change that is not predicted to affect protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.
Counsyl RCV000663140 SCV000786287 uncertain significance Breast-ovarian cancer, familial 1 2018-04-11 criteria provided, single submitter clinical testing
Color RCV000776460 SCV000912005 uncertain significance Hereditary cancer-predisposing syndrome 2019-04-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV000776460 SCV001185743 uncertain significance Hereditary cancer-predisposing syndrome 2019-03-07 criteria provided, single submitter clinical testing Insufficient evidence
Brotman Baty Institute,University of Washington RCV000663140 SCV001241602 not provided Breast-ovarian cancer, familial 1 no assertion provided in vitro

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