ClinVar Miner

Submissions for variant NM_006096.3(NDRG1):c.1053_1082del (p.340_349TRSRSHTSEG[2])

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000792340 SCV000931629 uncertain significance Charcot-Marie-Tooth disease type 4 2018-10-29 criteria provided, single submitter clinical testing This variant, c.1053_1082del, results in the deletion of 10 amino acids of the NDRG1 protein (p.Thr360_Gly369del), but otherwise preserves the integrity of the reading frame. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with NDRG1-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted  amino acids 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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