ClinVar Miner

Submissions for variant NM_000166.6(GJB1):c.544T>A (p.Ser182Thr)

dbSNP: rs1602349628
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Concord Molecular Medicine Laboratory, Concord Repatriation General Hospital RCV003985824 SCV004692829 pathogenic Charcot-Marie-Tooth disease X-linked dominant 1 2024-03-06 criteria provided, single submitter clinical testing This variant segregates with disease in multiple affected family members. This variant has also been reported to cause X-linked dominant Charcot-Marie-Tooth neuropathy 1 (CMTX1) in multiple separate families (PMID: 9818870, 24290847). The variant is not detected in control population (gnomAD v4). Structural and functional studies showed that the variant is located within the second extracellular domain and leads to failed gap function formation (PMID: 9361298, 15006706). Other variants within this domain have been described to cause CMTX1 (PMID: 11571214). In silico analysis suggests this variant to be deleterious (REVEL 0.96).
Inherited Neuropathy Consortium RCV000789833 SCV000929217 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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