ClinVar Miner

Submissions for variant NM_000836.4(GRIN2D):c.872C>G (p.Pro291Arg)

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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 RCV003065095 SCV003454032 uncertain significance not provided 2023-08-10 criteria provided, single submitter clinical testing 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 not expected to disrupt GRIN2D protein function. ClinVar contains an entry for this variant (Variation ID: 2145561). This missense change has been observed in individual(s) with clinical features of developmental and epileptic encephalopathy (Invitae). This variant is present in population databases (rs761842024, gnomAD 0.02%). This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 291 of the GRIN2D protein (p.Pro291Arg). 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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