Submissions for variant NM_006096.3(NDRG1):c.1053_1082del (p.340_349TRSRSHTSEG[2]) (rs751274009)

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000792340	SCV000931629	uncertain significance	Charcot-Marie-Tooth disease type 4	2019-12-24	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.
CeGaT Praxis fuer Humangenetik Tuebingen	RCV000999079	SCV001155490	uncertain significance	not provided	2019-02-01	criteria provided, single submitter	clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre	RCV001174338	SCV001337474	likely benign	Charcot-Marie-Tooth disease		criteria provided, single submitter	clinical testing