ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.2851A>G (p.Ile951Val) (rs730881626)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000160325 SCV000210826 uncertain significance not provided 2014-09-26 criteria provided, single submitter clinical testing This variant is denoted BRIP1 c.2851A>G at the cDNA level, p.Ile951Val (I951V) at the protein level, and results in the change of an Isoleucine to a Valine (ATT>GTT). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. BRIP1 Ile951Val was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Since Isoleucine and Valine share similar properties, this is considered a conservative amino acid substitution. BRIP1 Ile951Val occurs at a position that is poorly conserved across species with Valine being the naturally occurring residue in other mammals and is located in the region for interaction with BRCA1 (UniProt). In silico analyses predict that this variant is unlikely to alter protein structure or function. Based on currently available information, it is unclear whether BRIP1 Ile951Val is pathogenic or benign. We consider it to be a variant of uncertain significance.
Color RCV000775410 SCV000909755 uncertain significance Hereditary cancer-predisposing syndrome 2018-07-25 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000160325 SCV001134018 uncertain significance not provided 2018-11-02 criteria provided, single submitter clinical testing

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