ClinVar Miner

Submissions for variant NM_000166.6(GJB1):c.633C>A (p.Tyr211Ter) (rs1569215443)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000760373 SCV000890236 pathogenic not provided 2018-09-14 criteria provided, single submitter clinical testing The Y211X variant in the GJB1 gene has been reported to segregate with disease in multiple family members with X-linked Charcot-Marie-Tooth disease (Tan et al., 1996). Functional studies demonstrate that Y211X results in a smaller protein size and defective intracellular trafficking due to failure to form functional gap junctions (Ressot et al., 1998, Yum et al., 2002). This variant is predicted to cause loss of normal protein function through protein truncation where the last 73 amino acids are lost. The Y211X variant is not observed in large population cohorts (Lek et al., 2016). We interpret Y211X as a pathogenic variant.
Inherited Neuropathy Consortium RCV000789956 SCV000929341 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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