ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.772C>G (p.Gln258Glu) (rs1555609257)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000498236 SCV000590154 uncertain significance not provided 2017-06-06 criteria provided, single submitter clinical testing The Q258E variant in the BRIP1 gene has not, to our knowledge, been published in the literature as pathogenic or benign. This variant was not observed in large population cohorts (NHLBI Exome Sequencing Project, The 1000 Genomes Consortium 2015, Lek et al., 2016). Since Glutamine and Glutamic Acid differ in some properties, this is considered a semi-conservative amino acid substitution. This substitution occurs at a position that is conserved across species and is located in the helicase domain IA (Cantor et al., 2011). In silico analyses predict that this variant is probably damaging to protein structure and function. Based on currently available evidence, we consider Q258E to be a variant of uncertain significance.

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