ClinVar Miner

Submissions for variant NM_001365536.1(SCN9A):c.4629G>A (p.Met1543Ile) (rs200328637)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000797678 SCV000937251 uncertain significance Hereditary sensory and autonomic neuropathy type IIA; Generalized epilepsy with febrile seizures plus, type 7 2019-11-27 criteria provided, single submitter clinical testing This sequence change replaces methionine with isoleucine at codon 1532 of the SCN9A protein (p.Met1532Ile). The methionine residue is highly conserved and there is a small physicochemical difference between methionine and isoleucine. This variant is present in population databases (rs200328637, ExAC 0.01%). This variant has been observed in an individual affected with small fiber neuropathy (PMID: 21698661). Experimental studies have shown that this missense change results in a gain of function for the SCN9A protein (PMID: 21698661). 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 RCV000790200 SCV000929592 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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