ClinVar Miner

Submissions for variant NM_001347721.2(DYRK1A):c.1883C>T (p.Thr628Met)

gnomAD frequency: 0.00001  dbSNP: rs142149555
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000493407 SCV000583054 likely benign not provided 2019-12-12 criteria provided, single submitter clinical testing
Baylor Genetics RCV001336363 SCV001529726 uncertain significance DYRK1A-related intellectual disability syndrome 2018-02-19 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Invitae RCV001336363 SCV003253061 uncertain significance DYRK1A-related intellectual disability syndrome 2023-06-10 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 (rs142149555, gnomAD 0.01%). This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 637 of the DYRK1A protein (p.Thr637Met). ClinVar contains an entry for this variant (Variation ID: 430283). 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. 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 tolerated.

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