ClinVar Miner

Submissions for variant NM_001349253.2(SCN11A):c.5067C>G (p.Phe1689Leu) (rs201107889)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000551668 SCV000654760 uncertain significance Neuropathy, hereditary sensory and autonomic, type VII; Episodic pain syndrome, familial, 3 2019-08-30 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with leucine at codon 1689 of the SCN11A protein (p.Phe1689Leu). The phenylalanine residue is highly conserved and there is a small physicochemical difference between phenylalanine and leucine. This variant is present in population databases (rs201107889, ExAC 0.04%), 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 peripheral neuropathy (PMID: 24776970). ClinVar contains an entry for this variant (Variation ID: 474743). Experimental studies have shown that this missense change enhances the SCN11A activity (PMID: 29213238). 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 RCV000790198 SCV000929590 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only
Inherited Neuropathy Consortium RCV001027472 SCV001190042 uncertain significance Hereditary motor neuron disease no assertion criteria provided provider interpretation

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