ClinVar Miner

Submissions for variant NM_000530.8(MPZ):c.389A>G (p.Lys130Arg)

dbSNP: rs281865127
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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 RCV000516461 SCV000614108 pathogenic not provided 2017-01-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000819474 SCV000960137 pathogenic Charcot-Marie-Tooth disease, type I 2024-08-21 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 130 of the MPZ protein (p.Lys130Arg). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with Charcot-Marie-Tooth disease type 1B and/or Dejerine-Sottas syndrome (PMID: 8938258, 10923043, 12090401, 26454100, 27353517, 29670817). In at least one individual the variant was observed to be de novo. It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 41021). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt MPZ protein function with a negative predictive value of 80%. Studies have shown that this missense change alters MPZ gene expression (PMID: 11182278). For these reasons, this variant has been classified as Pathogenic.
Mendelics RCV000033918 SCV001135456 pathogenic Charcot-Marie-Tooth disease type 1B 2019-05-28 criteria provided, single submitter clinical testing
GeneReviews RCV000033918 SCV000057835 not provided Charcot-Marie-Tooth disease type 1B no assertion provided literature only
Eurofins Ntd Llc (ga) RCV000516461 SCV000228899 uncertain significance not provided 2015-04-02 flagged submission clinical testing

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