ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.1774T>G (p.Trp592Gly) (rs587780231)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000116131 SCV000150040 uncertain significance not provided 2014-02-10 criteria provided, single submitter clinical testing This variant is denoted BRIP1 c.1774T>G at the cDNA level, p.Trp592Gly (W592G) at the protein level, and results in the change of a Tryptophan to a Glycine (TGG>GGG). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. BRIP1 Trp592Gly was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project. This variant is a semi-conservative amino acid substitution, altering a position that is well conserved throughout evolution and is not located in a known functional domain. Multiple in silico algorithms predict that this variant may be damaging to protein structure and function. Based on the currently available information, we consider BRIP1 Trp592Gly to be a variant of uncertain significance. Furthermore, BRIP1 has been only recently described in association with cancer predisposition and the risks are not well understood.
Illumina Clinical Services Laboratory,Illumina RCV000323088 SCV000404604 uncertain significance Neoplasm of the breast 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000380078 SCV000404605 uncertain significance Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing

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