ClinVar Miner

Submissions for variant NM_006096.3(NDRG1):c.1051C>T (p.Arg351Ter) (rs765621411)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000226731 SCV000289137 uncertain significance Charcot-Marie-Tooth disease type 4 2018-11-19 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the NDRG1 gene (p.Arg351*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 44 amino acids of the NDRG1 protein. This variant is present in population databases (rs765621411, ExAC 0.4%). This variant has not been reported in the literature in individuals with NDRG1-related disease. ClinVar contains an entry for this variant (Variation ID: 240289). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. 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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