ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.2893_2901del (p.Met965_Met967del)

dbSNP: rs2105319200
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002011756 SCV002301784 likely pathogenic Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11 2021-07-29 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has been observed in individual(s) with SCN2A-related conditions (Invitae). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (ExAC no frequency). This variant, c.2893_2901del, results in the deletion of 3 amino acid(s) of the SCN2A protein (p.Met965_Met967del), but otherwise preserves the integrity of the reading frame.

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