ClinVar Miner

Submissions for variant NM_000530.8(MPZ):c.188C>T (p.Ser63Phe) (rs121913585)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory,London Health Sciences Centre RCV001173697 SCV001336810 likely pathogenic Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Invitae RCV001224917 SCV001397144 pathogenic Charcot-Marie-Tooth disease, type I 2019-07-24 criteria provided, single submitter clinical testing This sequence change replaces serine with phenylalanine at codon 63 of the MPZ protein (p.Ser63Phe). The serine residue is highly conserved and there is a large physicochemical difference between serine and phenylalanine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several individuals affected with Charcot-Marie-Tooth disease and to be de novo in at least one individual (PMID: 8835320, 15050444, 17294201). ClinVar contains an entry for this variant (Variation ID: 14177). This variant has been reported to affect MPZ protein function (PMID: 20461396). This variant disrupts the p.Ser63 amino acid residue in MPZ. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 7506095, 16495463, 20937820). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000015240 SCV000035499 pathogenic Charcot-Marie-Tooth disease, demyelinating, type 1b 1995-12-01 no assertion criteria provided literature only

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