ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.2094A>C (p.Glu698Asp)

dbSNP: rs1554746116
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000525980 SCV000633762 likely benign Early infantile epileptic encephalopathy with suppression bursts 2017-09-05 criteria provided, single submitter clinical testing
GeneDx RCV003148779 SCV003837326 uncertain significance not provided 2022-09-01 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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