ClinVar Miner

Submissions for variant NM_001365536.1(SCN9A):c.4226C>T (p.Thr1409Met)

gnomAD frequency: 0.00011  dbSNP: rs200763228
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000647797 SCV000769600 likely benign Neuropathy, hereditary sensory and autonomic, type 2A; Generalized epilepsy with febrile seizures plus, type 7 2024-01-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002331227 SCV002626640 uncertain significance Inborn genetic diseases 2020-03-04 criteria provided, single submitter clinical testing The p.T1398M variant (also known as c.4193C>T), located in coding exon 22 of the SCN9A gene, results from a C to T substitution at nucleotide position 4193. The threonine at codon 1398 is replaced by methionine, an amino acid with similar properties. This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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