ClinVar Miner

Submissions for variant NM_001347721.2(DYRK1A):c.1375A>T (p.Ile459Phe)

gnomAD frequency: 0.00001  dbSNP: rs1263156590
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002029698 SCV002306070 uncertain significance DYRK1A-related intellectual disability syndrome 2021-12-15 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 affected with DYRK1A-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change replaces isoleucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 468 of the DYRK1A protein (p.Ile468Phe).
GeneDx RCV002265059 SCV002547263 uncertain significance not provided 2022-01-11 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 25641759)

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