ClinVar Miner

Submissions for variant NM_000166.6(GJB1):c.656G>A (p.Arg219His) (rs199834862)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000685849 SCV000813348 uncertain significance Charcot-Marie-Tooth Neuropathy X 2018-04-18 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 219 of the GJB1 protein (p.Arg219His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual affected with Charcot-Marie-Tooth disease (PMID: 9361298). Experimental studies have shown that this missense change preserves normal sub-cellular protein localization (PMID: 12460545, 21280457). 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 RCV000789825 SCV000929209 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only
Natera, Inc. RCV000789825 SCV001462648 uncertain significance Charcot-Marie-Tooth disease 2020-09-16 no assertion criteria provided clinical testing

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