ClinVar Miner

Submissions for variant NM_001347721.2(DYRK1A):c.545_548del (p.Lys182fs)

dbSNP: rs1064796367
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000485794 SCV000573020 pathogenic not provided 2019-05-09 criteria provided, single submitter clinical testing Frameshift 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
Centogene AG - the Rare Disease Company RCV001251101 SCV001426600 likely pathogenic DYRK1A-related intellectual disability syndrome criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001251101 SCV002238504 pathogenic DYRK1A-related intellectual disability syndrome 2021-10-24 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: 423335). This sequence change creates a premature translational stop signal (p.Lys191Thrfs*6) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with clinical features of DYRK1A-related conditions (PMID: 32860008).
CeGaT Center for Human Genetics Tuebingen RCV000485794 SCV005050374 pathogenic not provided 2024-05-01 criteria provided, single submitter clinical testing DYRK1A: PVS1, PM2, PM6, PS4:Moderate
GenomeConnect - Simons Searchlight RCV001265303 SCV001443420 pathogenic Complex neurodevelopmental disorder 2018-09-10 no assertion criteria provided provider interpretation Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2018-09-10 and interpreted as Pathogenic. The reporting laboratory might also submit to ClinVar. This variant was identified in multiple probands enrolled in Simons Searchlight.

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