Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000481862 | SCV000573208 | pathogenic | not provided | 2022-08-15 | 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; This variant is associated with the following publications: (PMID: 25533962, 28053047, 28135719, 30564305, 33562844, 31785789, 33004838) |
Ambry Genetics | RCV000622466 | SCV000741114 | pathogenic | Inborn genetic diseases | 2015-10-08 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000698811 | SCV000827498 | pathogenic | DYRK1A-related intellectual disability syndrome | 2023-07-07 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg231*) 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 a neurodevelopmental disorder and multiple congenital anomalies (PMID: 28053047). ClinVar contains an entry for this variant (Variation ID: 423502). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. For these reasons, this variant has been classified as Pathogenic. |
Clinical Genetics and Genomics, |
RCV000481862 | SCV001450331 | pathogenic | not provided | 2016-10-19 | criteria provided, single submitter | clinical testing | |
Neuberg Supratech Reference Laboratories Pvt Ltd, |
RCV000698811 | SCV004047944 | likely pathogenic | DYRK1A-related intellectual disability syndrome | criteria provided, single submitter | clinical testing | The stop-gained variant c.664C>T (p.Arg222Ter) in DYRK1A has been reported previously as a de novo variant in an individual (Fitzgerald et al., 2015). This variant has been reported to the ClinVar database as Pathogenic. The c.664C>T variant is reported with allele frequency 0.0004% in gnomAD exomes and novel in 1000 Genomes. The nucleotide change c.664C>T in DYRK1A is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. This variant is predicted to cause loss of normal protein function. Loss of function variants have been previously reported to be disease causing. For these reasons, this variant has been classified as Likely Pathogenic . | |
Genome |
RCV001265464 | SCV001443599 | pathogenic | Complex neurodevelopmental disorder | 2016-11-18 | no assertion criteria provided | provider interpretation | Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2016-11-18 and interpreted as Pathogenic. Variant was initially reported on 2016-10-20 by GTR ID of laboratory name 1238. The reporting laboratory might also submit to ClinVar. |