ClinVar Miner

Submissions for variant NM_000530.8(MPZ):c.103G>T (p.Asp35Tyr) (rs121913596)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000638171 SCV000759657 pathogenic Charcot-Marie-Tooth disease, type I 2019-12-11 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with tyrosine at codon 35 of the MPZ protein (p.Asp35Tyr). The aspartic acid residue is highly conserved and there is a large physicochemical difference between aspartic acid and tyrosine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with Charcot-Marie-Tooth disease (PMID: 10406984). It has also been observed to segregate with disease in related individuals. This variant is also known as Asp6Tyr in the literature. ClinVar contains an entry for this variant (Variation ID: 14183). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt MPZ protein function. For these reasons, this variant has been classified as Pathogenic.
Molecular Genetics Laboratory,London Health Sciences Centre RCV001173698 SCV001336811 likely pathogenic Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
OMIM RCV000015247 SCV000035506 pathogenic Charcot-Marie-Tooth disease dominant intermediate d 1999-08-01 no assertion criteria provided literature only

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