ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.3454G>A (p.Ala1152Thr)

gnomAD frequency: 0.00001  dbSNP: rs766523968
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001231465 SCV001403989 likely benign Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11 2024-09-11 criteria provided, single submitter clinical testing
GeneDx RCV001546656 SCV001766211 likely benign not provided 2019-11-20 criteria provided, single submitter clinical testing This substitution is predicted to be within the cytoplasmic loop between the second and third homologous domains

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