ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.1675G>A (p.Val559Met)

gnomAD frequency: 0.00001  dbSNP: rs1476673300
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000516783 SCV000613547 uncertain significance not specified 2017-03-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001205706 SCV001376975 uncertain significance Landau-Kleffner syndrome 2022-08-05 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with GRIN2A-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 559 of the GRIN2A protein (p.Val559Met). This missense change has been observed in at least one individual who was not affected with GRIN2A-related conditions (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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt GRIN2A protein function. ClinVar contains an entry for this variant (Variation ID: 447456).

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