ClinVar Miner

Submissions for variant NM_014191.4(SCN8A):c.4948G>A (p.Ala1650Thr) (rs879255709)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000390676 SCV000329746 pathogenic not provided 2016-02-10 criteria provided, single submitter clinical testing The A1650T pathogenic variant in the SCN8A gene has been reported previously as a de novo variant in two unrelated individuals whose combined features include intractable early-onset epileptic encephalopathy, severely regressed development, intellectual disability, quadriparesis with dystonic posturing, hypotonia, and MRI abnormalities including asymmetric ventricles and mild diffuse atrophy (Larsen et al., 2015; Ohba et al., 2014). The A1650T variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The A1650T variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species and in silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret A1650T as a pathogenic variant.
GeneReviews RCV000239758 SCV000298211 pathogenic Early infantile epileptic encephalopathy 13 2016-02-19 no assertion criteria provided literature only
Neurogenetics Laboratory - MEYER,AOU Meyer RCV000417005 SCV000494530 pathogenic Epileptic encephalopathy 2016-11-16 criteria provided, single submitter clinical testing

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