ClinVar Miner

Submissions for variant NM_006096.3(NDRG1):c.506C>T (p.Ala169Val) (rs963190299)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000457547 SCV000551846 uncertain significance Charcot-Marie-Tooth disease type 4 2016-04-01 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 169 of the NDRG1 protein (p.Ala169Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a NDRG1-related disease. 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: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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