ClinVar Miner

Submissions for variant NM_001347721.2(DYRK1A):c.154C>G (p.Gln52Glu)

gnomAD frequency: 0.00001  dbSNP: rs1555977083
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001871927 SCV002206716 benign DYRK1A-related intellectual disability syndrome 2024-08-05 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001355234 SCV001550058 uncertain significance not provided no assertion criteria provided clinical testing The DYRK1A p.Gln23Glu variant was not identified in the literature nor was it identified in the dbSNP, ClinVar, Cosmic or LOVD 3.0 databases. The variant was not identified in the following control databases: the 1000 Genomes Project, the NHLBI GO Exome Sequencing Project, the Exome Aggregation Consortium (August 8th 2016), or the Genome Aggregation Database (Feb 27, 2017). The p.Gln23Glu residue is conserved in mammals but not in more distantly related organisms and four out of five computational analyses (PolyPhen-2, SIFT, AlignGVGD, and BLOSUM) do not suggest a high likelihood of impact to the protein; however, this information is not predictive enough to rule out pathogenicity. In summary, based on the above information the clinical significance of this variant cannot be determined with certainty at this time. This variant is classified as a variant of uncertain significance.

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