ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.255_256insCTCATGTCCGGG (p.His85_Val86insLeuMetSerGly)

dbSNP: rs2142389389
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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 RCV001984109 SCV002280099 likely pathogenic Landau-Kleffner syndrome 2021-03-29 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This variant, c.255_256insCTCATGTCCGGG, results in the insertion of 4 amino acid(s) to the GRIN2A protein (p.His85_Val86insLeuMetSerGly), but otherwise preserves the integrity of the reading frame. This variant has been observed in individual(s) with clinical features of GRIN2A-related conditions (Invitae). In at least one individual the variant was observed to be de novo. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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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