ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.2960G>T (p.Ser987Ile) (rs796053124)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189127 SCV000242759 pathogenic not provided 2016-04-01 criteria provided, single submitter clinical testing The Ser987Ile missense change has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The NHLBI ESP Exome Variant Project has not identified Ser987Ile in approximately 6,500 individuals of European or African American ethnicity, indicating that it is not a common benign variant in these populations. The amino acid substitution is non-conservative, as a polar Serine residue is replaced by a non-polar Isoleucine residue. The Ser987Ile substitution alters a highly conserved position in the intracellular loop between the second and third transmembrane domains, and other mutations in this region of the protein have been reported in association with benign familial neonatal-infantile seizures (Shi et al., 2012). Additionally, several in silico algorithms predict Ser987Ile is damaging to protein structure/function. Therefore, Ser987Ile is a strong candidate for a disease-causing mutation. The variant is found in EPILEPSY,INFANT-EPI panel(s).
UCLA Clinical Genomics Center, UCLA RCV000195526 SCV000255456 likely pathogenic Early infantile epileptic encephalopathy 11 2013-01-22 criteria provided, single submitter clinical testing
Center of Genomic medicine, Geneva,University Hospital of Geneva RCV000417104 SCV000494649 pathogenic Episodic ataxia; Seizures; Vertigo 2015-11-04 criteria provided, single submitter clinical testing Patient with infantile epilepsy, vertigo and episodic ataxia. Missense SCN2A variants have been reported to cause infantile epilepsy and one case of episodic ataxia caused by a missense variant in SCN2A. The observed variant has never been reported yet.

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