ClinVar Miner

Submissions for variant NM_001365536.1(SCN9A):c.3497G>A (p.Cys1166Tyr)

gnomAD frequency: 0.00001  dbSNP: rs370455223
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000287148 SCV000418452 uncertain significance Small fiber neuropathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000344487 SCV000418453 uncertain significance Severe myoclonic epilepsy in infancy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000391416 SCV000418454 uncertain significance Generalized epilepsy with febrile seizures plus 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000309601 SCV000418455 uncertain significance Febrile seizures, familial 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000366314 SCV000418456 uncertain significance Inherited Erythromelalgia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000406524 SCV000418457 uncertain significance Congenital Indifference to Pain 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000312648 SCV000418458 uncertain significance Paroxysmal extreme pain disorder 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000552252 SCV000649324 uncertain significance Neuropathy, hereditary sensory and autonomic, type 2A; Generalized epilepsy with febrile seizures plus, type 7 2025-01-28 criteria provided, single submitter clinical testing This sequence change replaces cysteine, which is neutral and slightly polar, with tyrosine, which is neutral and polar, at codon 1155 of the SCN9A protein (p.Cys1155Tyr). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with SCN9A-related conditions. ClinVar contains an entry for this variant (Variation ID: 331969). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt SCN9A protein function with a negative predictive value of 95%. 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.

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