ClinVar Miner

Submissions for variant NM_000166.6(GJB1):c.556G>T (p.Glu186Ter) (rs116840821)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000214191 SCV000279583 pathogenic not provided 2016-02-19 criteria provided, single submitter clinical testing The E186X nonsense variant in the GJB1 gene has been reported previously in association with CMTX1 (Ionasescu et al., 1994; Basu et al., 2011). The E186X variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. This pathogenic variant is predicted to cause loss of normal protein function through protein truncation as the last 98 amino acid residues are lost. Therefore, the presence of E186X is consistent with a diagnosis of CMTX1.
Inherited Neuropathy Consortium RCV000789222 SCV000928574 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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