ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.2589+2dup

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Lifecell International Pvt. Ltd RCV003128169 SCV003804184 likely pathogenic Migraine, familial hemiplegic, 3; Severe myoclonic epilepsy in infancy; Generalized epilepsy with febrile seizures plus, type 2; Developmental and epileptic encephalopathy 6B criteria provided, single submitter clinical testing The splice region variant NM_001165963.4(SCN1A):c.2589+2dupT has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.2589+2dupT variant is novel (not in any individuals) in gnomAD. The c.2589+2dupT variant is novel (not in any individuals) in 1kG. The nucleotide c.2589+2dupT in SCN1A is predicted conserved by GERP++ and PhyloP across 100 vertebrates; this variant is also predicted to be disrupted by NNSplice and PWM. Nearby regions of c.2589+2dupT; c.2589+1G>T (ClinVar ID: 372551) and c.2589+3G>T (ClinVar ID: 189938) are reported in ClinVar as pathogenic. For these reasons, this variant has been classified as Likely Pathogenic.
Mayo Clinic Laboratories, Mayo Clinic RCV004790481 SCV005413511 pathogenic not provided 2024-02-01 criteria provided, single submitter clinical testing PP3, PM2_moderate, PS1

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