ClinVar Miner

Submissions for variant NM_001347721.2(DYRK1A):c.284dup (p.Tyr95Ter)

dbSNP: rs1555979158
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000543161 SCV000651267 pathogenic DYRK1A-related intellectual disability syndrome 2017-06-16 criteria provided, single submitter clinical testing Loss-of-function variants in DYRK1A are known to be pathogenic (PMID: 25944381). This variant has not been reported in the literature in individuals with a DYRK1A-related disease. However, a different variant (c.312C>G) giving rise to the same protein effect observed here (p.Tyr104*) has been reported in an individual affected with microcephaly, intellectual disability, speech impairment, and distinct facial features (PMID: 25944381). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Tyr104*) in the DYRK1A gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic.

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