ClinVar Miner

Submissions for variant NM_000304.4(PMP22):c.341C>T (p.Ala114Val)

dbSNP: rs1217342392
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV001542602 SCV004047573 uncertain significance Charcot-Marie-Tooth disease, type IA criteria provided, single submitter clinical testing The missense variant c.341C>T (p.Ala114Val) in PMP22 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant has been reported to the ClinVar database as Likely Pathogenic. The p.Ala114Val variant is novel (not in any individuals) in 1000 Genomes and allele frequency of 0.0003989% is reported in gnomAD. The amino acid Ala at position 114 is changed to a Val changing protein sequence and it might alter its composition and physico-chemical properties. The amino acid change p.Ala114Val in PMP22 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance.
Genomics England Pilot Project, Genomics England RCV001542602 SCV001760395 likely pathogenic Charcot-Marie-Tooth disease, type IA no assertion criteria provided clinical testing

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