ClinVar Miner

Submissions for variant NM_001365536.1(SCN9A):c.4820C>T (p.Thr1607Ile) (rs200470541)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000118309 SCV000152683 uncertain significance not provided 2013-08-27 criteria provided, single submitter clinical testing
Invitae RCV000459242 SCV000548351 uncertain significance Hereditary sensory and autonomic neuropathy type IIA; Generalized epilepsy with febrile seizures plus, type 7 2020-01-03 criteria provided, single submitter clinical testing This sequence change replaces threonine with isoleucine at codon 1596 of the SCN9A protein (p.Thr1596Ile). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and isoleucine. This variant is present in population databases (rs200470541, ExAC 0.04%). This variant has been observed in an individual affected with diabetic peripheral neuropathy (PMID: 29176367)). ClinVar contains an entry for this variant (Variation ID: 130271). Experimental studies have shown that this missense change demonstrated gain of function changes as a consequence of markedly impaired channel fast inactivation in vitro (PMID: 29176367). 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.
Fulgent Genetics,Fulgent Genetics RCV000765522 SCV000896836 uncertain significance Primary erythromelalgia; Hereditary sensory and autonomic neuropathy type IIA; Paroxysmal extreme pain disorder; Severe myoclonic epilepsy in infancy; Indifference to pain, congenital, autosomal recessive; Generalized epilepsy with febrile seizures plus, type 7 2018-10-31 criteria provided, single submitter clinical testing

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