ClinVar Miner

Submissions for variant NM_000530.8(MPZ):c.451C>A (p.Pro151Thr) (rs754068936)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UCLA Clinical Genomics Center, UCLA RCV000195798 SCV000255413 likely pathogenic Charcot-Marie-Tooth disease type 2I; Charcot-Marie-Tooth disease type 2J; Charcot-Marie-Tooth disease, demyelinating, type 1b; Charcot-Marie-Tooth disease dominant intermediate d; Roussy-Lévy syndrome; Dejerine-Sottas disease; Congenital hypomyelinating neuropathy 1, autosomal recessive 2013-02-19 criteria provided, single submitter clinical testing
Invitae RCV000805947 SCV000945923 uncertain significance Charcot-Marie-Tooth disease, type I 2019-03-07 criteria provided, single submitter clinical testing This sequence change replaces proline with threonine at codon 151 of the MPZ protein (p.Pro151Thr). The proline residue is highly conserved and there is a small physicochemical difference between proline and threonine. This variant is present in population databases (rs754068936, ExAC 0.002%). This variant has been observed in an individual affected with Charcot-Marie-Tooth disease (PMID: 25326637). ClinVar contains an entry for this variant (Variation ID: 216963). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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