ClinVar Miner

Submissions for variant NM_006096.3(NDRG1):c.122A>G (p.His41Arg) (rs2233318)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000766501 SCV000292636 uncertain significance not provided 2019-08-30 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Listed as a variant int he NCBI SNP database; however, this variant was not found in this study and no additional information was provided (Hunter et al., 2003); This variant is associated with the following publications: (PMID: 12872253, 32376792)
Athena Diagnostics Inc RCV000236642 SCV000614151 uncertain significance not specified 2016-10-13 criteria provided, single submitter clinical testing
Invitae RCV000551572 SCV000657840 uncertain significance Charcot-Marie-Tooth disease type 4 2019-12-19 criteria provided, single submitter clinical testing This sequence change replaces histidine with arginine at codon 41 of the NDRG1 protein (p.His41Arg). The histidine residue is moderately conserved and there is a small physicochemical difference between histidine and arginine. This variant is present in population databases (rs2233318, ExAC 0.2%). This variant has not been reported in the literature in individuals with NDRG1-related disease. ClinVar contains an entry for this variant (Variation ID: 245649). 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: "Tolerated"; 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.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000766501 SCV001155492 uncertain significance not provided 2018-04-01 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre RCV001173707 SCV001336821 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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