ClinVar Miner

Submissions for variant NM_000530.8(MPZ):c.224A>T (p.Asp75Val) (rs121913597)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001070451 SCV001235682 pathogenic Charcot-Marie-Tooth disease, type I 2019-12-04 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with valine at codon 75 of the MPZ protein (p.Asp75Val). The aspartic acid residue is highly conserved and there is a large physicochemical difference between aspartic acid and valine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with Charcot-Marie-Tooth disease (PMID: 11080237, 12402337). ClinVar contains an entry for this variant (Variation ID: 14184). This variant has been reported to affect MPZ protein function (PMID: 20461396). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000015248 SCV000035507 pathogenic Charcot-Marie-Tooth disease type 2J 2000-12-01 no assertion criteria provided literature only
GeneReviews RCV000190346 SCV000055674 pathogenic Charcot-Marie-Tooth disease, demyelinating, type 1b 2015-03-26 no assertion criteria provided literature only

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