ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.1103C>G (p.Pro368Arg) (rs1064793072)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000486758 SCV000564811 uncertain significance not provided 2014-10-17 criteria provided, single submitter clinical testing This variant is denoted BRIP1 c.1103C>G at the cDNA level, p.Pro368Arg (P368R) at the protein level, and results in the change of a Proline to an Arginine (CCC>CGC). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. BRIP1 Pro368Arg 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 Proline and Arginine differ in polarity, charge, size or other properties, this is considered a non-conservative amino acid substitution. BRIP1 Pro368Arg occurs at a position that is conserved across species and is located within the Helicase ATP-binding domain (UniProt). In silico analyses predict that this variant is probably damaging to protein structure and function. Based on currently available information, it is unclear whether BRIP1 Pro368Arg is pathogenic or benign. We consider it to be a variant of uncertain significance.

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