ClinVar Miner

Submissions for variant NM_000166.6(GJB1):c.712C>T (p.Arg238Cys)

gnomAD frequency: 0.00005  dbSNP: rs200774406
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000525515 SCV000658920 uncertain significance Charcot-Marie-Tooth Neuropathy X 2017-06-28 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 238 of the GJB1 protein (p.Arg238Cys). The arginine residue is moderately conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs200774406, ExAC 0.03%). This variant has been reported in an individual affected with Charcot Marie Tooth disease type 1 (PMID: 23838279). 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: "Possibly Damaging"; Align-GVGD: "Class C0"). 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 RCV000789895 SCV000929280 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only
Natera, Inc. RCV000789895 SCV002087254 uncertain significance Charcot-Marie-Tooth disease 2020-12-07 no assertion criteria provided clinical testing

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