ClinVar Miner

Submissions for variant NM_001347721.2(DYRK1A):c.127C>A (p.Arg43Ser)

dbSNP: rs367984873
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001899475 SCV002129765 uncertain significance DYRK1A-related intellectual disability syndrome 2021-08-19 criteria provided, single submitter clinical testing This sequence change replaces arginine with serine at codon 43 of the DYRK1A protein (p.Arg43Ser). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and serine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with clinical features of DYRK1A-related conditions (Invitae). 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. 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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