ClinVar Miner

Submissions for variant NM_006096.3(NDRG1):c.681dup (p.Ile228fs) (rs879254290)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000236853 SCV000294082 pathogenic not provided 2016-11-07 criteria provided, single submitter clinical testing The c.681dupC pathogenic variant in the NDRG1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant causes a frameshift starting with codon Isoleucine 228, changes this amino acid to a Histidine residue, and creates a premature Stop codon at position 13 of the new reading frame, denoted p.Ile228HisfsX13. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.681dupC variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.681dupC as a pathogenic variant.
Molecular Genetics Laboratory,London Health Sciences Centre RCV001173032 SCV001336107 pathogenic Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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