ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.5645G>A (p.Arg1882Gln) (rs794727444)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000189181 SCV000228475 likely pathogenic not provided 2014-07-15 criteria provided, single submitter clinical testing
GeneDx RCV000189181 SCV000242813 pathogenic not provided 2017-03-15 criteria provided, single submitter clinical testing The R1882Q variant in the SCN2A has been reported multiple times previously as a de novo change in individuals with epileptic encephalopathy (Carvill et al., 2013; Howell et al., 2015; Trump et al., 2016). The R1882Q variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The R1882Q variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a conserved position predicted to be within the C-terminal cytoplasmic domain, and missense variants at the same position (R1882G, R1882L) have been reported in the Human Gene Mutation Database in association with SCN2A-related disorders (Stenson et al., 2014).
Neurogenetics Laboratory - MEYER,AOU Meyer RCV000417008 SCV000494507 pathogenic Epileptic encephalopathy 2016-11-16 criteria provided, single submitter clinical testing
Baylor Genetics RCV000176763 SCV000807296 uncertain significance Early infantile epileptic encephalopathy 11 2017-09-01 criteria provided, single submitter clinical testing Likely pathogenicity based on finding it once in our laboratory de novo in a 13-year-old female with intellectual disability, absent speech, intractable general convulsion epilepsy, gingival hyperplasia, cerebellar atrophy, ataxia
OMIM RCV000176763 SCV001371871 pathogenic Early infantile epileptic encephalopathy 11 2020-07-08 no assertion criteria provided literature only

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