ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.2422A>G (p.Arg808Gly) (rs587780237)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000116140 SCV000150049 uncertain significance not provided 2018-12-27 criteria provided, single submitter clinical testing This variant is denoted BRIP1 c.2422A>G at the cDNA level, p.Arg808Gly (R808G) at the protein level, and results in the change of an Arginine to a Glycine (AGA>GGA). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. BRIP1 Arg808Gly was not observed in large population cohorts (Lek 2016). This variant is not located in a known functional domain. In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect. Based on currently available evidence, it is unclear whether BRIP1 Arg808Gly is a pathogenic or benign variant. We consider it to be a variant of uncertain significance
Ambry Genetics RCV000571281 SCV000664830 uncertain significance Hereditary cancer-predisposing syndrome 2017-08-04 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence

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