ClinVar Miner

Submissions for variant NM_006920.6(SCN1A):c.3685_3696del (p.Ile1229_Asp1232del)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000797770 SCV000937349 uncertain significance Early infantile epileptic encephalopathy 2018-08-14 criteria provided, single submitter clinical testing This variant, c.3718_3729delATATATATTGAT, results in the deletion of 4 amino acids of the SCN1A protein (p.Ile1240_Asp1243del), 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 in an individual affected with early infantile epileptic encephalopathy (Invitae). This variant identified in the SCN1A gene is located in the extracellular D3-S1/S2 region of the resulting protein (PMID: 25348405, 18804930), but it is unclear how this variant impacts the function of this protein. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acids is currently unknown. The observation of one or more variants affecting p.Tyr1241 (p.Tyr1241His and p.Ile1240_Asp1243del) in affected individuals suggests that this may be a clinically significant residue (PMID: 28012175, Invitae). 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.

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