ClinVar Miner

Submissions for variant NM_001349253.2(SCN11A):c.1744G>A (p.Ala582Thr) (rs141228634)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000651887 SCV000773743 uncertain significance Neuropathy, hereditary sensory and autonomic, type VII; Episodic pain syndrome, familial, 3 2019-09-25 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 582 of the SCN11A protein (p.Ala582Thr). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and threonine. This variant is present in population databases (rs141228634, ExAC 0.02%), 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: 541582). Experimental studies have shown that this missense change increases sodium channel 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 RCV000790195 SCV000929587 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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