ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.2885A>G (p.Glu962Gly) (rs780367532)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000695819 SCV000824340 uncertain significance Hereditary breast and ovarian cancer syndrome 2019-07-03 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with glycine at codon 962 of the BRCA1 protein (p.Glu962Gly). The glutamic acid residue is moderately conserved and there is a moderate physicochemical difference between glutamic acid and glycine. This variant is present in population databases (rs780367532, ExAC 0.001%). This variant has been reported in an individual affected with breast and/or ovarian cancer (PMID: 17262179). This variant is also known as c.3004A>G in the literature. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000985394 SCV001133539 uncertain significance not provided 2018-10-30 criteria provided, single submitter clinical testing

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