ClinVar Miner

Submissions for variant NM_001347721.2(DYRK1A):c.187C>G (p.Gln63Glu)

gnomAD frequency: 0.00001  dbSNP: rs373178770
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000523249 SCV000619424 uncertain significance not provided 2018-05-24 criteria provided, single submitter clinical testing The Q63E variant in the DYRK1A gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The Q63E variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The Q63E variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved in mammals. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret Q63E as a variant of uncertain significance.
Invitae RCV001857986 SCV002308395 uncertain significance DYRK1A-related intellectual disability syndrome 2021-04-01 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 DYRK1A protein function. This variant has not been reported in the literature in individuals with DYRK1A-related conditions. ClinVar contains an entry for this variant (Variation ID: 450805). This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamine with glutamic acid at codon 63 of the DYRK1A protein (p.Gln63Glu). The glutamine residue is moderately conserved and there is a small physicochemical difference between glutamine and glutamic acid.

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