ClinVar Miner

Submissions for variant NM_020631.6(PLEKHG5):c.1292T>G (p.Leu431Arg)

dbSNP: rs746661057
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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 RCV000757670 SCV000885981 uncertain significance not provided 2017-12-03 criteria provided, single submitter clinical testing The p.Leu431Arg 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 leucine at position 431 is moderately conserved and computational analyses of the effects of the p.Leu431Arg variant on protein structure and function provides conflicting results (SIFT: tolerated, MutationTaster: benign, PolyPhen-2: disease causing). Altogether, there is not enough evidence to classify the p.Leu431Arg variant with certainty.

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