ClinVar Miner

Submissions for variant NM_001330260.2(SCN8A):c.4634C>T (p.Thr1545Ile)

gnomAD frequency: 0.00001  dbSNP: rs759753811
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV000660650 SCV000782777 uncertain significance Developmental and epileptic encephalopathy, 13; Seizures, benign familial infantile, 5 2018-02-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001493054 SCV001697676 likely benign Early infantile epileptic encephalopathy with suppression bursts 2024-04-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002334226 SCV002635245 uncertain significance Inborn genetic diseases 2017-07-18 criteria provided, single submitter clinical testing The p.T1545I variant (also known as c.4634C>T), located in coding exon 25 of the SCN8A gene, results from a C to T substitution at nucleotide position 4634. The threonine at codon 1545 is replaced by isoleucine, an amino acid with similar properties. This amino acid position is not 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.

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