ClinVar Miner

Submissions for variant NM_000166.6(GJB1):c.218A>G (p.His73Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001300676 SCV001489825 uncertain significance Charcot-Marie-Tooth Neuropathy X 2020-07-15 criteria provided, single submitter clinical testing This sequence change replaces histidine with arginine at codon 73 of the GJB1 protein (p.His73Arg). The histidine residue is highly conserved and there is a small physicochemical difference between histidine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with GJB1-related conditions. 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: Probably 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.
Institute of Human Genetics,University of Wuerzburg RCV001328477 SCV001519631 likely pathogenic Peripheral neuropathy no assertion criteria provided clinical testing

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