ClinVar Miner

Submissions for variant NM_001349253.2(SCN11A):c.2095G>A (p.Gly699Arg) (rs145734191)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000706069 SCV000835100 uncertain significance Neuropathy, hereditary sensory and autonomic, type VII; Episodic pain syndrome, familial, 3 2019-12-08 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 699 of the SCN11A protein (p.Gly699Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is present in population databases (rs145734191, ExAC 0.03%), and has an allele count higher than expected for a pathogenic variant (PMID: 28166811). This variant has been reported in an individual affected with painful small fiber neuropathy (PMID: 25791876). ClinVar contains an entry for this variant (Variation ID: 582088). Experimental studies have shown that this missense change exhibits gain-of-function properties (PMID: 25791876). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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 RCV000790193 SCV000929585 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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