ClinVar Miner

Submissions for variant NM_000304.4(PMP22):c.185T>G (p.Leu62Arg) (rs756046682)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics,Fulgent Genetics RCV000765330 SCV000896592 uncertain significance Guillain-Barre syndrome, familial; Hereditary liability to pressure palsies; Roussy-Lévy syndrome; Charcot-Marie-Tooth disease and deafness; Charcot-Marie-Tooth disease, type IA; Dejerine-Sottas disease 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000168113 SCV000218769 uncertain significance Charcot-Marie-Tooth disease, type I 2018-09-24 criteria provided, single submitter clinical testing This sequence change replaces leucine with arginine at codon 62 of the PMP22 protein (p.Leu62Arg). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual affected with hereditary motor neuropathy (PMID: 26392352). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.

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