Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000488995 | SCV000576995 | uncertain significance | not provided | 2018-08-22 | criteria provided, single submitter | clinical testing | A variant of uncertain significance has been identified in the NDRG1 gene. The N220K variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. This variant is observed in 40/10152 (0.4%) alleles from individuals of Ashkenazi Jewish background in large population cohorts as well as 1 homozygous individual undergoing testing at GeneDx (Lek et al., 2016). The N220K variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant. |
Invitae | RCV001083966 | SCV000776038 | likely benign | Charcot-Marie-Tooth disease type 4 | 2019-12-31 | criteria provided, single submitter | clinical testing |