ClinVar Miner

Submissions for variant NM_000304.4(PMP22):c.320G>T (p.Gly107Val) (rs1597597900)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000807479 SCV000947532 pathogenic Charcot-Marie-Tooth disease, type I 2018-10-23 criteria provided, single submitter clinical testing This sequence change replaces glycine with valine at codon 107 of the PMP22 protein (p.Gly107Val). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and valine. This variant is not present in population databases (ExAC no frequency). This variant has been reported to segregate with Charcot-Marie-Tooth  disease in a family (PMID: 9040744) and has been observed in several affected individuals (PMID: 28286897, Invitae). Experimental studies have shown that this missense change adversely impacts protein function (PMID:26102530, 28748849). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. For these reasons, this variant has been classified as Pathogenic.
Inherited Neuropathy Consortium RCV000789517 SCV000928873 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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