ClinVar Miner

Submissions for variant NM_000166.6(GJB1):c.68T>C (p.Val23Ala) (rs1602348650)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001056787 SCV001221251 pathogenic Charcot-Marie-Tooth Neuropathy X 2019-05-02 criteria provided, single submitter clinical testing This sequence change replaces valine with alanine at codon 23 of the GJB1 protein (p.Val23Ala). The valine residue is moderately conserved and there is a small physicochemical difference between valine and alanine. This variant is not present in population databases (ExAC no frequency). This variant has been observed to segregate with Charcot-Marie-Tooth disease in a family (Invitae), and has been observed in several individuals affected with Charcot-Marie-Tooth disease (PMID: 9187667, 17100997, 23011429). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: Deleterious; PolyPhen-2: Benign; Align-GVGD: Class C0). For these reasons, this variant has been classified as Pathogenic.
Inherited Neuropathy Consortium RCV000789834 SCV000929218 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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