ClinVar Miner

Submissions for variant NM_000836.4(GRIN2D):c.2791C>G (p.Pro931Ala)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003693642 SCV004452964 uncertain significance not provided 2023-04-06 criteria provided, single submitter clinical testing 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 not expected to disrupt GRIN2D protein function. This variant has not been reported in the literature in individuals affected with GRIN2D-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the gnomAD database. This sequence change replaces proline, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 931 of the GRIN2D protein (p.Pro931Ala).
3billion, Medical Genetics RCV004723424 SCV005328548 likely benign Developmental and epileptic encephalopathy, 46 2024-09-20 criteria provided, single submitter clinical testing The variant was identified in at least one patient who was diagnosed with a different variant in another gene and showed no symptoms related to the gene containing the variant in question.
GeneDx RCV003693642 SCV005401809 uncertain significance not provided 2024-05-13 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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