ClinVar Miner

Submissions for variant NM_006096.4(NDRG1):c.637C>A (p.Gln213Lys)

gnomAD frequency: 0.00001  dbSNP: rs1213776109
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, London Health Sciences Centre RCV001173037 SCV001336112 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Ambry Genetics RCV002365827 SCV002659085 uncertain significance Inborn genetic diseases 2021-08-24 criteria provided, single submitter clinical testing The p.Q213K variant (also known as c.637C>A), located in coding exon 9 of the NDRG1 gene, results from a C to A substitution at nucleotide position 637. The glutamine at codon 213 is replaced by lysine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV002558745 SCV003300896 uncertain significance Charcot-Marie-Tooth disease type 4 2022-03-10 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with lysine, which is basic and polar, at codon 213 of the NDRG1 protein (p.Gln213Lys). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with Charcot-Marie-Tooth disease (PMID: 32376792). ClinVar contains an entry for this variant (Variation ID: 916898). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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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