ClinVar Miner

Submissions for variant NM_000166.6(GJB1):c.359T>A (p.Val120Glu) (rs1049663989)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001228785 SCV001401203 uncertain significance Charcot-Marie-Tooth Neuropathy X 2019-10-28 criteria provided, single submitter clinical testing This sequence change replaces valine with glutamic acid at codon 120 of the GJB1 protein (p.Val120Glu). The valine residue is highly conserved and there is a moderate physicochemical difference between valine and glutamic acid. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals with clinical features of Charcot-Marie-Tooth disease (PMID: 10220155, Invitae). ClinVar contains an entry for this variant (Variation ID: 637612). 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. 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 RCV000789871 SCV000929256 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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