ClinVar Miner

Submissions for variant NM_001365536.1(SCN9A):c.4148A>G (p.Lys1383Arg) (rs779536952)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000194859 SCV000248830 uncertain significance not specified 2015-08-04 criteria provided, single submitter clinical testing
Invitae RCV000551270 SCV000649338 uncertain significance Hereditary sensory and autonomic neuropathy type IIA; Generalized epilepsy with febrile seizures plus, type 7 2018-05-30 criteria provided, single submitter clinical testing This sequence change replaces lysine with arginine at codon 1372 of the SCN9A protein (p.Lys1372Arg). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and arginine. This variant is present in population databases (rs779536952, ExAC 0.03%) but has not been reported in the literature in individuals with a SCN9A-related disease. ClinVar contains an entry for this variant (Variation ID: 212137). 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 tolerated, but these predictions have not been confirmed by published functional studies. In summary, this variant is a rare missense change that is not predicted to affect protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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