ClinVar Miner

Submissions for variant NM_006096.3(NDRG1):c.660C>A (p.Asn220Lys) (rs143549909)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx 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

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