ClinVar Miner

Submissions for variant NM_006096.3(NDRG1):c.416C>G (p.Thr139Arg) (rs863224745)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000197306 SCV000254913 uncertain significance Charcot-Marie-Tooth disease type 4 2015-05-08 criteria provided, single submitter clinical testing This sequence change replaces threonine with arginine at codon 139 of the NDRG1 protein (p.Thr139Arg). The threonine residue is moderately conserved and there is a moderate physicochemical difference between threonine and arginine. This variant has not been published in the literature and is present in population databases (no rsID, <0.01%). 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: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, this is a rare missense change with uncertain impact on protein function. Although there is no indication that this variant causes disease, the evidence is insufficient at this time to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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