ClinVar Miner

Submissions for variant NM_001365536.1(SCN9A):c.2432T>C (p.Phe811Ser)

dbSNP: rs182018126
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000705002 SCV000833979 uncertain significance Neuropathy, hereditary sensory and autonomic, type 2A; Generalized epilepsy with febrile seizures plus, type 7 2020-01-27 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with SCN9A-related disease. This variant is present in population databases (rs182018126, ExAC 0.01%). This sequence change replaces phenylalanine with serine at codon 800 of the SCN9A protein (p.Phe800Ser). The phenylalanine residue is highly conserved and there is a large physicochemical difference between phenylalanine and serine.

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