ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.3502G>A (p.Val1168Ile)

gnomAD frequency: 0.00002  dbSNP: rs146374754
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000587683 SCV000697765 uncertain significance not provided 2016-08-12 criteria provided, single submitter clinical testing Variant summary: The SCN1A c.3502G>A (p.Val1168Ile) variant involves the alteration of a conserved nucleotide. 5/5 in silico tools predict a benign outcome for this variant . This variant was found in 3/121350 control chromosomes at a frequency of 0.0000247, which is approximately 1.4 times the estimated maximal expected allele frequency of a pathogenic SCN1A variant (0.0000179), suggesting this variant is likely a benign polymorphism. However, due to the small number of carriers in this cohort, this information is not strong enough to classify this variant as benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as a VUS- possibly benign variant.
Invitae RCV002530921 SCV003516225 likely benign Early infantile epileptic encephalopathy with suppression bursts 2023-08-01 criteria provided, single submitter clinical testing

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