ClinVar Miner

Submissions for variant NM_006096.4(NDRG1):c.701G>A (p.Arg234Gln)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001238680 SCV001411506 uncertain significance Charcot-Marie-Tooth disease type 4 2019-09-20 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 234 of the NDRG1 protein (p.Arg234Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs755968590, ExAC 0.006%). This variant has been observed to segregate with autosomal recessive Charcot-Marie-Tooth disease in a family (PMID: 28776325). This variant has been reported to affect NDRG1 protein function (PMID: 28776325). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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