ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.4162G>A (p.Glu1388Lys)

gnomAD frequency: 0.00003  dbSNP: rs775820803
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000188943 SCV000242574 likely benign not provided 2021-05-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000814902 SCV000955339 likely benign Early infantile epileptic encephalopathy with suppression bursts 2024-10-15 criteria provided, single submitter clinical testing
Baylor Genetics RCV001328554 SCV001519699 uncertain significance Migraine, familial hemiplegic, 3 2019-08-08 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Ambry Genetics RCV002517011 SCV003756891 uncertain significance Inborn genetic diseases 2021-05-01 criteria provided, single submitter clinical testing The c.4162G>A (p.E1388K) alteration is located in exon 21 (coding exon 21) of the SCN1A gene. This alteration results from a G to A substitution at nucleotide position 4162, causing the glutamic acid (E) at amino acid position 1388 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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