ClinVar Miner

Submissions for variant NM_001365536.1(SCN9A):c.4105G>A (p.Glu1369Lys)

gnomAD frequency: 0.00001  dbSNP: rs1298235055
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001344360 SCV001538409 uncertain significance Neuropathy, hereditary sensory and autonomic, type 2A; Generalized epilepsy with febrile seizures plus, type 7 2022-11-22 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt SCN9A protein function. ClinVar contains an entry for this variant (Variation ID: 1040681). This variant has not been reported in the literature in individuals affected with SCN9A-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.006%). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 1358 of the SCN9A protein (p.Glu1358Lys).
Revvity Omics, Revvity Omics RCV003136007 SCV003826967 uncertain significance not provided 2022-02-03 criteria provided, single submitter clinical testing

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