ClinVar Miner

Submissions for variant NM_000530.8(MPZ):c.314C>T (p.Pro105Leu) (rs786204215)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000168337 SCV000219026 pathogenic Charcot-Marie-Tooth disease, type I 2019-08-14 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 105 of the MPZ protein (p.Pro105Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine. This variant is not present in population databases (ExAC no frequency). This variant has been reported to segregate with autosomal dominant Charcot-Marie-Tooth disease type-2 (CMT2) in families (PMID: 29465609, Invitae). ClinVar contains an entry for this variant (Variation ID: 188325). 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. For these reasons, this variant has been classified as Pathogenic.
Molecular Genetics Laboratory,London Health Sciences Centre RCV001173695 SCV001336806 likely pathogenic Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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