ClinVar Miner

Submissions for variant NM_002677.5(PMP2):c.128T>A (p.Ile43Asn) (rs879253869)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000235076 SCV000292370 likely pathogenic Peripheral neuropathy 2015-08-18 criteria provided, single submitter research Likely pathogenic based on conservation and prediction scores (Phylop, Polyphen, SIFT, MutationTaster) . Variant segregated with the disease in a family with demyelinating peripheral neuropathy. Supported by function of encoded protein in myelin and zebrafish functional assay (PMID: 26257172).
OMIM RCV000736030 SCV000864249 pathogenic PMP2-related Charcot-Marie-Tooth disease type 1 2019-01-16 no assertion criteria provided literature only

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