ClinVar Miner

Submissions for variant NM_006096.3(NDRG1):c.304G>A (p.Gly102Ser) (rs200433822)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000525303 SCV000657841 uncertain significance Charcot-Marie-Tooth disease type 4 2018-12-11 criteria provided, single submitter clinical testing This sequence change replaces glycine with serine at codon 102 of the NDRG1 protein (p.Gly102Ser). The glycine residue is moderately conserved and there is a small physicochemical difference between glycine and serine. This variant is present in population databases (rs200433822, ExAC 0.02%). This variant has not been reported in the literature in individuals with an NDRG1-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The serine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, this variant has uncertain impact on NDRG1 function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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