ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.3556A>G (p.Ile1186Val)

gnomAD frequency: 0.00001  dbSNP: rs1433862850
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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 RCV001371921 SCV001568505 likely benign Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11 2023-11-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV003264022 SCV003948735 uncertain significance Inborn genetic diseases 2023-05-22 criteria provided, single submitter clinical testing The c.3556A>G (p.I1186V) alteration is located in exon 19 (coding exon 18) of the SCN2A gene. This alteration results from a A to G substitution at nucleotide position 3556, causing the isoleucine (I) at amino acid position 1186 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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