ClinVar Miner

Submissions for variant NM_020631.5(PLEKHG5):c.633G>T (p.Gly211=) (rs1365704916)

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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 RCV000756550 SCV000884386 uncertain significance not provided 2018-06-12 criteria provided, single submitter clinical testing The p.Gly211Gly 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). This is a synonymous variant in a weakly conserved nucleotide, and computational analyses (Alamut v.2.11) predict that this variant may impact splicing by creating a novel cryptic donor splice site. Altogether, there is not enough evidence to classify the p.Gly211Gly variant with certainty.

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