ClinVar Miner

Submissions for variant NM_001347721.2(DYRK1A):c.1488G>A (p.Ser496=)

gnomAD frequency: 0.00001  dbSNP: rs767630443
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000928035 SCV001073636 likely benign DYRK1A-related intellectual disability syndrome 2022-10-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002390939 SCV002708569 likely benign Inborn genetic diseases 2020-08-24 criteria provided, single submitter clinical testing This alteration is classified as likely 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.

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