ClinVar Miner

Submissions for variant NM_001347721.2(DYRK1A):c.2011T>C (p.Tyr671His)

gnomAD frequency: 0.00001  dbSNP: rs1019836603
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001665447 SCV001872913 uncertain significance not provided 2021-06-11 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 does not alter protein structure/function; This variant is associated with the following publications: (PMID: 27535533)
Invitae RCV003640981 SCV004509036 uncertain significance DYRK1A-related intellectual disability syndrome 2023-11-03 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with histidine, which is basic and polar, at codon 680 of the DYRK1A protein (p.Tyr680His). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with DYRK1A-related conditions. ClinVar contains an entry for this variant (Variation ID: 1254522). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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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