ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.292C>T (p.Leu98Phe)

dbSNP: rs1596586969
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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 RCV000800699 SCV000940429 likely pathogenic Landau-Kleffner syndrome 2018-08-29 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 missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has been observed to be de novo in in an individual affected with refractory epilepsy and intellectual disability (Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with phenylalanine at codon 98 of the GRIN2A protein (p.Leu98Phe). The leucine residue is weakly conserved and there is a small physicochemical difference between leucine and phenylalanine.

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