ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.2068A>G (p.Arg690Gly)

dbSNP: rs939867202
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001928063 SCV002184169 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2021-11-02 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. 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 not expected to disrupt SCN1A protein function. This missense change has been observed in individual(s) with clinical features of SCN1A-related conditions (Invitae). This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 690 of the SCN1A protein (p.Arg690Gly).

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