ClinVar Miner

Submissions for variant NM_000166.6(GJB1):c.*15C>T

dbSNP: rs1057520778
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001057812 SCV001222327 pathogenic Charcot-Marie-Tooth Neuropathy X 2019-10-04 criteria provided, single submitter clinical testing This variant occurs in a non-coding region of the GJB1 gene. It does not change the encoded amino acid sequence of the GJB1 protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several individuals affected with Charcot-Marie-Tooth (CMT) disease and was observed to segregate with CMT in a large family (PMID: 28283593, 29236290). ClinVar contains an entry for this variant (Variation ID: 379903). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of this non-coding change is currently unknown. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV001782902 SCV002018427 likely pathogenic Charcot-Marie-Tooth disease X-linked dominant 1 2021-05-06 criteria provided, single submitter clinical testing
GeneDx RCV000443661 SCV000517410 likely benign not specified 2016-04-05 flagged submission clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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