ClinVar Miner

Submissions for variant NM_000530.8(MPZ):c.310G>T (p.Asp104Tyr)

dbSNP: rs777378929
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000199865 SCV000254591 uncertain significance Charcot-Marie-Tooth disease, type I 2015-05-22 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C65"). This variant has not been published in the literature and is not present in population databases. In summary, this is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. This sequence change replaces aspartic acid with tyrosine at codon 104 of the MPZ protein (p.Asp104Tyr). The aspartic acid residue is highly conserved and there is a large physicochemical difference between aspartic acid and tyrosine.

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