ClinVar Miner

Submissions for variant NM_000166.6(GJB1):c.370A>G (p.Lys124Glu) (rs1555937161)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000530309 SCV000658909 uncertain significance Charcot-Marie-Tooth Neuropathy X 2018-11-05 criteria provided, single submitter clinical testing This sequence change replaces lysine with glutamic acid at codon 124 of the GJB1 protein (p.Lys124Glu). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and glutamic acid. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with Charcot–Marie–Tooth (PMID: 27234031). ClinVar contains an entry for this variant (Variation ID: 477596). 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 C55"). 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.
Kariminejad - Najmabadi Pathology & Genetics Center RCV001007462 SCV001167074 pathogenic Charcot-Marie-Tooth Neuropathy X Type 1 criteria provided, single submitter clinical testing

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