ClinVar Miner

Submissions for variant NM_000530.8(MPZ):c.194C>A (p.Thr65Asn)

dbSNP: rs1571819964
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001390412 SCV001592139 pathogenic Charcot-Marie-Tooth disease, type I 2022-08-16 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Thr65 amino acid residue in MPZ. Other variant(s) that disrupt this residue have been observed in individuals with MPZ-related conditions (PMID: 12402337, 15036333, 15050444, 20456450, 31211173), which suggests that this may be a clinically significant amino acid residue. ClinVar contains an entry for this variant (Variation ID: 637928). This missense change has been observed in individual(s) with MPZ-related conditions (PMID: 20456450). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces threonine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 65 of the MPZ protein (p.Thr65Asn).
Mendelics RCV002249496 SCV002517326 likely pathogenic Charcot-Marie-Tooth disease type 1B 2022-05-04 criteria provided, single submitter clinical testing
Inherited Neuropathy Consortium RCV000790308 SCV000929716 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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