ClinVar Miner

Submissions for variant NM_001347721.2(DYRK1A):c.363G>C (p.Lys121Asn)

dbSNP: rs991834315
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000501770 SCV000594472 uncertain significance not specified 2015-11-11 criteria provided, single submitter clinical testing
Invitae RCV001058314 SCV001222874 uncertain significance DYRK1A-related intellectual disability syndrome 2019-03-06 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with DYRK1A-related conditions. ClinVar contains an entry for this variant (Variation ID: 435009). This variant is not present in population databases (ExAC no frequency). This sequence change replaces lysine with asparagine at codon 130 of the DYRK1A protein (p.Lys130Asn). The lysine residue is highly conserved and there is a moderate physicochemical difference between lysine and asparagine.
GeneDx RCV001662493 SCV001874101 uncertain significance not provided 2021-07-22 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 25641759)

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