ClinVar Miner

Submissions for variant NM_000166.6(GJB1):c.-103C>T (rs863224971)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000201088 SCV000255686 pathogenic X-linked hereditary motor and sensory neuropathy 2013-07-11 criteria provided, single submitter clinical testing
Invitae RCV000228634 SCV000283685 pathogenic Charcot-Marie-Tooth Neuropathy X 2019-10-18 criteria provided, single submitter clinical testing This sequence change falls in the 5' UTR of the GJB1 gene. It does not change the encoded amino acid sequence of the GJB1 protein, but has been reported to affect the expression of GJB1. The genomic region containing this variant is not covered in population databases (ExAC no frequency). This variant has been reported in individuals affected with CMT (PMID: 23827825, 26392352, 28768847, 28283593) and has been found to segregate with disease in affected families (PMID: 8757034, 19335535, 28283593). This variant is also known as c.-458C>T and c.-459C>T in the literature. ClinVar contains an entry for this variant (Variation ID: 217166). Experimental studies have shown that this sequence change affects translation and results in a reduction of GJB1 expression (PMID: 10931843, 23827825). For these reasons, this variant has been classified as Pathogenic.
Codex Genetics Limited RCV000201088 SCV000995998 pathogenic X-linked hereditary motor and sensory neuropathy 2019-02-28 no assertion criteria provided provider interpretation

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