ClinVar Miner

Submissions for variant NM_000530.8(MPZ):c.270C>A (p.Asp90Glu) (rs121913584)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000015230 SCV000255798 pathogenic Charcot-Marie-Tooth disease, demyelinating, type 1b 2015-08-26 criteria provided, single submitter clinical testing
Invitae RCV000704216 SCV000833155 pathogenic Charcot-Marie-Tooth disease, type I 2019-10-21 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with glutamic acid at codon 90 of the MPZ protein (p.Asp90Glu). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and glutamic acid. 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 has been observed to segregate with disease in an affected family (PMID: 7693129, 20571287). It has also been reported to be de novo in an individual affected with hereditary motor and sensory neuropathy (PMID: 25694466). ClinVar contains an entry for this variant (Variation ID: 14167). Experimental studies have shown that this missense change results in decreased cellular aggregation in vitro (PMID: 25694466). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000015230 SCV000035489 pathogenic Charcot-Marie-Tooth disease, demyelinating, type 1b 1993-09-01 no assertion criteria provided literature only
Inherited Neuropathy Consortium RCV000789441 SCV000928797 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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