ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.5205A>T (p.Glu1735Asp) (rs431825412)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000205011 SCV000260014 uncertain significance Hereditary breast and ovarian cancer syndrome 2015-08-19 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with aspartic acid at codon 1735 of the BRCA1 protein (p.Glu1735Asp). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and aspartic acid. This variant is not present in population databases and has not been published in the literature. ClinVar contains an entry for this variant (RCV000083064). 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 disruptive, but these predictions have not been confirmed by published functional studies. In summary, this is a rare missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.
Sharing Clinical Reports Project (SCRP) RCV000083064 SCV000115138 uncertain significance Breast-ovarian cancer, familial 1 2008-03-19 no assertion criteria provided clinical testing
Brotman Baty Institute,University of Washington RCV000083064 SCV001241926 not provided Breast-ovarian cancer, familial 1 no assertion provided in vitro

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