ClinVar Miner

Submissions for variant NM_000533.5(PLP1):c.410G>A (p.Arg137Gln)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003338146 SCV004047105 uncertain significance Pelizaeus-Merzbacher disease criteria provided, single submitter clinical testing The missense variant in c.410G>A (p.Arg137Gln) in PLP1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. Another variant Arg137Gly occurring at the same amino acid position has been reported as Pathogenic. The p.Arg137Gln variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. The amino acid Arg at position 137 is changed to a Gln changing protein sequence and it might alter its composition and physico-chemical properties. The amino acid change p.Arg137Gln in PLP1 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates.For these reasons, this variant has been classified as Uncertain Significance.

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