ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.2339A>G (p.Gln780Arg) (rs1410232200)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000507027 SCV000600283 uncertain significance not specified 2017-07-21 criteria provided, single submitter clinical testing
Invitae RCV000559783 SCV000635845 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-04-13 criteria provided, single submitter clinical testing This sequence change replaces glutamine with arginine at codon 780 of the BRCA1 protein (p.Gln780Arg). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BRCA1-related disease. ClinVar contains an entry for this variant (Variation ID: 438919). 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.
Ambry Genetics RCV000567591 SCV000661066 uncertain significance Hereditary cancer-predisposing syndrome 2016-08-02 criteria provided, single submitter clinical testing Insufficient evidence
Color RCV000567591 SCV001340836 uncertain significance Hereditary cancer-predisposing syndrome 2020-04-28 criteria provided, single submitter clinical testing

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