ClinVar Miner

Submissions for variant NM_001365536.1(SCN9A):c.2576T>C (p.Ile859Thr) (rs80356474)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001067998 SCV001233085 pathogenic Hereditary sensory and autonomic neuropathy type IIA; Generalized epilepsy with febrile seizures plus, type 7 2019-12-23 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with threonine at codon 848 of the SCN9A protein (p.Ile848Thr). The isoleucine residue is highly conserved and there is a moderate physicochemical difference between isoleucine and threonine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with autosomal dominant primary erythromelalgia (PMID: 14985375, 29911575). In at least one individual the variant was observed to be de novo. It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 6350). This variant has been reported to affect SCN9A protein function (PMID: 15385606). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000006722 SCV000026913 pathogenic Primary erythromelalgia 2004-09-22 no assertion criteria provided literature only
GeneReviews RCV000006722 SCV000040964 pathogenic Primary erythromelalgia 2020-01-14 no assertion criteria provided literature only
NIHR Bioresource Rare Diseases, University of Cambridge RCV001004018 SCV001162079 likely pathogenic Acute episodes of neuropathic symptoms; Abnormality of pain sensation no assertion criteria provided research

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