ClinVar Miner

Submissions for variant NM_001347721.2(DYRK1A):c.2189T>C (p.Met730Thr)

gnomAD frequency: 0.00001  dbSNP: rs764653772
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001774535 SCV002001986 uncertain significance not provided 2021-02-05 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002425060 SCV002729641 likely benign Inborn genetic diseases 2018-06-20 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV002540592 SCV002978151 uncertain significance DYRK1A-related intellectual disability syndrome 2022-08-25 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with DYRK1A-related conditions. This variant is present in population databases (rs764653772, gnomAD 0.0009%). This sequence change replaces methionine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 739 of the DYRK1A protein (p.Met739Thr). 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: 1315285).

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