ClinVar Miner

Submissions for variant NM_001347721.2(DYRK1A):c.1039A>G (p.Thr347Ala)

gnomAD frequency: 0.00186  dbSNP: rs145857775
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000433815 SCV000523884 benign not specified 2017-02-14 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.
Invitae RCV000550099 SCV000651250 benign DYRK1A-related intellectual disability syndrome 2024-01-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002311486 SCV000845963 benign Inborn genetic diseases 2016-10-19 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: 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.
CeGaT Center for Human Genetics Tuebingen RCV003437180 SCV004153646 benign not provided 2022-05-01 criteria provided, single submitter clinical testing DYRK1A: BS1, BS2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000550099 SCV004562938 benign DYRK1A-related intellectual disability syndrome 2023-11-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003912684 SCV004731090 benign DYRK1A-related condition 2022-05-19 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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