ClinVar Miner

Submissions for variant NM_001347721.2(DYRK1A):c.404A>G (p.Asn135Ser)

dbSNP: rs1601230964
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000824283 SCV000965176 uncertain significance DYRK1A-related intellectual disability syndrome 2022-03-19 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). 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 expected to disrupt DYRK1A protein function. ClinVar contains an entry for this variant (Variation ID: 665902). This variant has not been reported in the literature in individuals affected with DYRK1A-related conditions. This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 144 of the DYRK1A protein (p.Asn144Ser).

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