ClinVar Miner

Submissions for variant NM_000166.6(GJB1):c.64C>T (p.Arg22Ter) (rs1555937020)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000516443 SCV000613498 pathogenic not provided 2017-03-22 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763633 SCV000894501 pathogenic Charcot-Marie-Tooth Neuropathy X Type 1 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000796941 SCV000936476 pathogenic Charcot-Marie-Tooth Neuropathy X 2020-10-22 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the GJB1 gene (p.Arg22*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 262 amino acids of the GJB1 protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed to be de novo in an individual affected with Charcot-Marie-Tooth disease type X (CMTX) (PMID: 21692908). This variant has also been observed in several other individuals and families affected with CMTX (PMID: 11571214, 9401007, 8004109). ClinVar contains an entry for this variant (Variation ID: 447441). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acids is currently unknown. For these reasons, this variant has been classified as Pathogenic.
Molecular Genetics Laboratory,London Health Sciences Centre RCV000789221 SCV001336648 pathogenic Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
GeneDx RCV000516443 SCV001823793 pathogenic not provided 2019-04-11 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 31948496, 27228968, 8698335, 21692908, 18379723, 9401007, 21291455, 28768847, 24123415, 8004109)
Inherited Neuropathy Consortium RCV000789221 SCV000928573 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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