ClinVar Miner

Submissions for variant NM_000836.4(GRIN2D):c.263C>T (p.Ala88Val)

gnomAD frequency: 0.00001  dbSNP: rs1406326967
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV001885110 SCV002011275 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001885110 SCV002156895 uncertain significance not provided 2021-12-03 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: 1319388). This variant has not been reported in the literature in individuals affected with GRIN2D-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.007%). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 88 of the GRIN2D protein (p.Ala88Val). 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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