ClinVar Miner

Submissions for variant NM_001081.3(CUBN):c.1349G>A (p.Gly450Asp) (rs146463364)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756007 SCV000883702 uncertain significance not provided 2017-09-08 criteria provided, single submitter clinical testing The c.1349G>A; p.Gly450Asp variant (rs146463364) has not been reported in the medical literature, nor has it been previously identified by our laboratory. This variant is listed in the Genome Aggregation Database (gnomAD) with a population frequency of 0.1 percent in the African population (identified on 33 out of 24,030 chromosomes). The glycine at position 450 is moderately conserved across 10 species (Alamut v2.9.0) and computational analyses of the effects of the p.Gly450Asp variant on protein structure and function provide conflicting results (SIFT: tolerated, MutationTaster: disease causing, PolyPhen-2: benign). Altogether, there is not enough evidence to classify the p.Gly450Asp variant with certainty.

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