ClinVar Miner

Submissions for variant NM_001097642.2(GJB1):c.572_580dup(p.Phe193_Met194insThrValPhe) (rs116840823)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000698062 SCV000826703 uncertain significance Charcot-Marie-Tooth Neuropathy X 2018-04-26 criteria provided, single submitter clinical testing This variant, c.572_580dupCCGTCTTCA, results in the insertion of 3 amino acid(s) to the GJB1 protein (p.Thr191_Phe193dup), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has been reported in a family affected with Charcot-Marie-Tooth disease, type X (CMTX) (PMID: 17052905). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the duplicated amino acids is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
GeneReviews RCV000020177 SCV000040508 pathologic X-linked hereditary motor and sensory neuropathy 2010-04-15 no assertion criteria provided curation Converted during submission to Pathogenic.

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