ClinVar Miner

Submissions for variant NM_001347721.2(DYRK1A):c.451G>A (p.Glu151Lys)

dbSNP: rs1470299902
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001756284 SCV001988503 uncertain significance not provided 2019-05-09 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV003640986 SCV004484256 uncertain significance DYRK1A-related intellectual disability syndrome 2022-11-29 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. ClinVar contains an entry for this variant (Variation ID: 1302610). This variant has not been reported in the literature in individuals affected with DYRK1A-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 160 of the DYRK1A protein (p.Glu160Lys).

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