ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.7256G>A (p.Arg2419Gln)

gnomAD frequency: 0.00001  dbSNP: rs772995493
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000548132 SCV000633801 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2023-11-27 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 2419 of the SPTAN1 protein (p.Arg2419Gln). This variant is present in population databases (rs772995493, gnomAD 0.003%). This missense change has been observed in individual(s) with clinical features of SPTAN1-related conditions (Invitae). ClinVar contains an entry for this variant (Variation ID: 461237). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on SPTAN1 protein function. 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.
Fulgent Genetics, Fulgent Genetics RCV000766047 SCV000897491 uncertain significance Developmental and epileptic encephalopathy, 5 2018-10-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000766047 SCV002056770 uncertain significance Developmental and epileptic encephalopathy, 5 2021-07-15 criteria provided, single submitter clinical testing

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