ClinVar Miner

Submissions for variant NM_001130823.3(DNMT1):c.950A>G (p.Glu317Gly) (rs1478185698)

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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 RCV000757176 SCV000885312 uncertain significance not provided 2018-01-18 criteria provided, single submitter clinical testing The p.Glu317Gly variant has not been reported in the medical literature, gene specific variation databases, nor has it been previously identified by our laboratory. It is absent from general population databases such as 1000 Genomes, NHLBI GO Exome Sequencing Project (ESP), and the Genome Aggregation Database (gnomAD). The glutamic acid at position 317 is moderately conserved considering 12 species (Alamut v2.10) and computational analyses of the effects of the p.Glu317Gly variant on protein structure and function provide conflicting results (SIFT: damaging, MutationTaster: polymorphism, PolyPhen-2: benign). Altogether, there is not enough evidence to classify the p.Glu317Gly variant with certainty.

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