ClinVar Miner

Submissions for variant NM_001347721.2(DYRK1A):c.1555C>T (p.Arg519Trp)

gnomAD frequency: 0.00001  dbSNP: rs1448604709
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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 RCV000502029 SCV000594478 uncertain significance not specified 2015-09-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001865604 SCV002128064 benign DYRK1A-related intellectual disability syndrome 2025-01-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002404309 SCV002708296 likely benign Inborn genetic diseases 2019-10-01 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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