ClinVar Miner

Submissions for variant NM_000166.6(GJB1):c.323T>C (p.Leu108Pro)

dbSNP: rs1602349183
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001873224 SCV002255448 uncertain significance Charcot-Marie-Tooth Neuropathy X 2021-06-23 criteria provided, single submitter clinical testing This sequence change replaces leucine with proline at codon 108 of the GJB1 protein (p.Leu108Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline. 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has been observed in individual(s) with Charcot-Marie-Tooth disease (PMID: 11835375). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 637682). This variant is not present in population databases (ExAC no frequency).
Inherited Neuropathy Consortium RCV000789954 SCV000929339 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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