ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.2416-35_2419dup

dbSNP: rs1696890186
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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 RCV001304281 SCV001493554 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2024-01-03 criteria provided, single submitter clinical testing This sequence change falls in intron 13 of the SCN1A gene. It does not directly change the encoded amino acid sequence of the SCN1A protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SCN1A-related conditions. ClinVar contains an entry for this variant (Variation ID: 1007140). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
GeneDx RCV004783946 SCV005396422 pathogenic not provided 2024-11-09 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense-mediated mRNA decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge

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