ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.632G>A (p.Gly211Asp)

dbSNP: rs1697311700
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003770378 SCV004569192 pathogenic Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11 2022-11-23 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt SCN2A protein function. ClinVar contains an entry for this variant (Variation ID: 984860). This missense change has been observed in individual(s) with SCN2A-related conditions (PMID: 23662938, 29655203). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 211 of the SCN2A protein (p.Gly211Asp).
GenomeConnect - Simons Searchlight RCV001265408 SCV001443534 likely pathogenic Complex neurodevelopmental disorder 2016-04-25 no assertion criteria provided provider interpretation Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2016-04-25 and interpreted as Likely Pathogenic. Variant was initially reported on 2015-03-27 by GTR ID of laboratory name 26957. The reporting laboratory might also submit to ClinVar.
Channelopathy-Associated Epilepsy Research Center RCV001265408 SCV004232400 not provided Complex neurodevelopmental disorder no assertion provided literature only

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