ClinVar Miner

Submissions for variant NM_001365536.1(SCN9A):c.1979C>T (p.Thr660Met)

gnomAD frequency: 0.00004  dbSNP: rs200965749
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000546296 SCV000649289 likely benign Neuropathy, hereditary sensory and autonomic, type 2A; Generalized epilepsy with febrile seizures plus, type 7 2024-10-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002413369 SCV002719326 uncertain significance Inborn genetic diseases 2020-05-14 criteria provided, single submitter clinical testing The p.T649M variant (also known as c.1946C>T), located in coding exon 12 of the SCN9A gene, results from a C to T substitution at nucleotide position 1946. The threonine at codon 649 is replaced by methionine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Bioinformatics Core, Luxembourg Center for Systems Biomedicine RCV000655987 SCV000588263 pathogenic Self-limited epilepsy with centrotemporal spikes 2017-01-01 no assertion criteria provided case-control CAADphred>15

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