ClinVar Miner

Submissions for variant NM_000530.8(MPZ):c.131C>T (p.Ser44Phe) (rs121913598)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000190345 SCV000055673 pathogenic Charcot-Marie-Tooth disease, demyelinating, type 1b 2015-03-26 no assertion criteria provided literature only
Inherited Neuropathy Consortium RCV000790099 SCV000929489 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only
Invitae RCV000638152 SCV000759638 pathogenic Charcot-Marie-Tooth disease, type I 2018-12-12 criteria provided, single submitter clinical testing This sequence change replaces serine with phenylalanine at codon 44 of the MPZ protein (p.Ser44Phe). The serine residue is highly conserved and there is a large physicochemical difference between serine and phenylalanine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in multiple individuals affected with Charcot-Marie-Tooth disease (CMT) and reported to segregate with CMT in several families (PMID: 9595994, 21149811, 27639257, 26310628, 28286897). ClinVar contains an entry for this variant (Variation ID: 14185). Experimental studies have shown that this missense change reduces cell adhesiveness in vitro (PMID: 20461396). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000015249 SCV000035508 pathogenic Charcot-Marie-Tooth disease type 2I 1998-05-01 no assertion criteria provided literature only

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