ClinVar Miner

Submissions for variant NM_001347721.2(DYRK1A):c.331C>T (p.Gln111Ter)

dbSNP: rs1555980223
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001390863 SCV001592729 pathogenic DYRK1A-related intellectual disability syndrome 2023-08-04 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1076837). This variant has not been reported in the literature in individuals affected with DYRK1A-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln120*) in the DYRK1A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DYRK1A are known to be pathogenic (PMID: 25944381).
GeneDx RCV001569195 SCV001793223 pathogenic not provided 2020-12-01 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge

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