ClinVar Miner

Submissions for variant NM_000166.6(GJB1):c.248T>G (p.Leu83Arg)

dbSNP: rs1602349004
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001318400 SCV001509099 uncertain significance Charcot-Marie-Tooth Neuropathy X 2020-10-26 criteria provided, single submitter clinical testing Experimental studies are conflicting or provide insufficient evidence to determine the effect of this variant on GJB1 protein function (PMID: 30737405). This variant has been observed in individual(s) with Charcot-Marie-Tooth disease (CMT) (PMID: 23011429, Invitae). ClinVar contains an entry for this variant (Variation ID: 637242). This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with arginine at codon 83 of the GJB1 protein (p.Leu83Arg). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and arginine. This variant disrupts the p.Leu83 amino acid residue in GJB1. Other variant(s) that disrupt this residue have been observed in individuals with GJB1-related conditions (PMID: 10093067), which suggests that this may be a clinically significant amino acid residue. 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.
Inherited Neuropathy Consortium RCV000789313 SCV000928666 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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