ClinVar Miner

Submissions for variant NM_000530.8(MPZ):c.242A>G (p.His81Arg)

dbSNP: rs121913594
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000518134 SCV000614104 pathogenic not provided 2015-05-28 criteria provided, single submitter clinical testing Not found in the total gnomAD dataset, and the data is high quality. Assessment of experimental evidence suggests this variant results in abnormal protein function. Segregates with disease in multiple families
Invitae RCV001385507 SCV001585385 pathogenic Charcot-Marie-Tooth disease, type I 2023-05-21 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 14179). For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects MPZ function (PMID: 18337304). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on MPZ protein function. This variant is also known as H52R. This missense change has been observed in individual(s) with Charcot-Marie-Tooth disease (PMID: 8990016). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces histidine, which is basic and polar, with arginine, which is basic and polar, at codon 81 of the MPZ protein (p.His81Arg).
OMIM RCV000015242 SCV000035501 pathogenic Charcot-Marie-Tooth disease type 1B 1997-01-01 no assertion criteria provided literature only
GeneReviews RCV000015242 SCV000055675 not provided Charcot-Marie-Tooth disease type 1B no assertion provided literature only
Inherited Neuropathy Consortium RCV000789479 SCV000928835 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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