ClinVar Miner

Submissions for variant NM_000304.4(PMP22):c.88G>A (p.Val30Met) (rs377335295)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000796876 SCV000936408 uncertain significance Charcot-Marie-Tooth disease, type I 2018-11-16 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 30 of the PMP22 protein (p.Val30Met). The valine residue is highly conserved and there is a small physicochemical difference between valine and methionine. This variant is present in population databases (rs377335295, ExAC 0.009%). This variant has been observed in an individual affected with hereditary neuropathy with liability to pressure palsies (HNPP) (PMID: 9748013). Experimental studies have shown that this missense change impairs the function of the PMP22 protein (PMID: 12901701). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Inherited Neuropathy Consortium RCV000790166 SCV000929557 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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