ClinVar Miner

Submissions for variant NM_000304.4(PMP22):c.307C>T (p.Gln103Ter) (rs1567704621)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000756558 SCV000884394 pathogenic not provided 2018-01-12 criteria provided, single submitter clinical testing The PMP22 c.307C>T; p.Gln103Ter variant was reported in a father and daughter with symptoms overlapping CMT1 and DSS (Pisciotta 2009). The c.307C>T variant creates a premature termination codon in exon 3 of 5 which is predicted to result in a truncated or absent protein product, and other PMP22 premature stop variants have been reported in patients diagnosed with CMT (Numakura 2002, Abe 2004, DiVincenzo 2014). This variant is absent from the general population databases (1000 Genomes Project, Exome Variant Server, Genome Aggregation Database). Based on the available information, the c.307C>T; p.Gln103Ter variant is classified as pathogenic.
Inherited Neuropathy Consortium RCV000790162 SCV000929553 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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