ClinVar Miner

Submissions for variant NM_000166.6(GJB1):c.163A>G (p.Thr55Ala) (rs863224613)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000200595 SCV000254268 uncertain significance Charcot-Marie-Tooth Neuropathy X 2015-03-31 criteria provided, single submitter clinical testing This sequence change replaces threonine with alanine at codon 55 of the GJB1 protein (p.Thr55Ala). The threonine residue is highly conserved and there is a small physicochemical difference between threonine and alanine. This variant has been reported in the literature and is not present in population databases. A study which looked at the clinical differences between patients with variants in three genes implicated in Charcot-Marie-Tooth disease reported this variant, however no additional information was reported regarding segregation with disease or functional effects of this variant (PMID: 12477701). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this is a rare missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.
Inherited Neuropathy Consortium RCV000789860 SCV000929245 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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