ClinVar Miner

Submissions for variant NM_001365536.1(SCN9A):c.5750T>C (p.Ile1917Thr)

gnomAD frequency: 0.00001  dbSNP: rs200876442
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000080040 SCV000111934 uncertain significance not provided 2013-11-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000647782 SCV000769585 uncertain significance Neuropathy, hereditary sensory and autonomic, type 2A; Generalized epilepsy with febrile seizures plus, type 7 2024-06-13 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1906 of the SCN9A protein (p.Ile1906Thr). This variant is present in population databases (rs200876442, gnomAD 0.002%). 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: 94091). 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 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.
Baylor Genetics RCV001329017 SCV001520304 uncertain significance Generalized epilepsy with febrile seizures plus, type 7 2020-07-08 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Human Genetics Bochum, Ruhr University Bochum RCV003886376 SCV004704498 uncertain significance Primary erythromelalgia 2023-03-09 criteria provided, single submitter clinical testing ACMG criteria used to clasify this variant: PP3_MOD

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