ClinVar Miner

Submissions for variant NM_001347721.2(DYRK1A):c.1389T>C (p.Tyr463=)

gnomAD frequency: 0.00499  dbSNP: rs55854596
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000428448 SCV000523022 benign not specified 2016-02-23 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Athena Diagnostics RCV000428448 SCV000613175 benign not specified 2024-09-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000526983 SCV000651254 benign DYRK1A-related intellectual disability syndrome 2024-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002311481 SCV000845910 benign Inborn genetic diseases 2016-04-08 criteria provided, single submitter clinical testing This alteration is classified as 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.
Breakthrough Genomics, Breakthrough Genomics RCV004717584 SCV005310603 benign not provided criteria provided, single submitter not provided

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