ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.2018A>G (p.Gln673Arg) (rs786203619)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000167010 SCV000217833 uncertain significance Hereditary cancer-predisposing syndrome 2015-09-25 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,In silico models in agreement (deleterious) and/or completely conserved position in appropriate species
Color RCV000167010 SCV000684177 uncertain significance Hereditary cancer-predisposing syndrome 2018-10-07 criteria provided, single submitter clinical testing
Invitae RCV000544477 SCV000633586 uncertain significance Familial cancer of breast; Fanconi anemia, complementation group J 2017-03-20 criteria provided, single submitter clinical testing This sequence change replaces glutamine with arginine at codon 673 of the BRIP1 protein (p.Gln673Arg). 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) and has not been reported in the literature in individuals with a BRIP1-related disease. ClinVar contains an entry for this variant (Variation ID: 187292). 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, this variant is a rare missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759703 SCV000889203 uncertain significance not provided 2017-09-15 criteria provided, single submitter clinical testing

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