ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.5288_5289delinsCCCATCTG (p.Ile1763delinsThrHisLeu) (rs1573948129)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000821412 SCV000962167 likely pathogenic Early infantile epileptic encephalopathy 2019-03-21 criteria provided, single submitter clinical testing This variant, c.5288_5289delinsCCCATCTG, results in the deletion of 1 amino acid(s) and insertion of 3 of the SCN1A protein (p.Ile1763delinsThrHisLeu), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has been observed to be de novo in an individual affected with SCN1A-related disease (Invitae). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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