ClinVar Miner

Submissions for variant NM_006096.4(NDRG1):c.488T>C (p.Ile163Thr)

gnomAD frequency: 0.00001  dbSNP: rs748782766
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, London Health Sciences Centre RCV001173033 SCV001336108 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001243503 SCV001416669 uncertain significance Charcot-Marie-Tooth disease type 4 2022-06-13 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 163 of the NDRG1 protein (p.Ile163Thr). This variant is present in population databases (rs748782766, gnomAD 0.007%). This missense change has been observed in individual(s) with NDRG1-related conditions (PMID: 32376792). ClinVar contains an entry for this variant (Variation ID: 916897). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
Ambry Genetics RCV002339425 SCV002635697 uncertain significance Inborn genetic diseases 2020-03-25 criteria provided, single submitter clinical testing The p.I163T variant (also known as c.488T>C), located in coding exon 7 of the NDRG1 gene, results from a T to C substitution at nucleotide position 488. The isoleucine at codon 163 is replaced by threonine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001836124 SCV002085048 uncertain significance Charcot-Marie-Tooth disease type 4D 2020-11-04 no assertion criteria provided clinical testing

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