Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001658937 | SCV001874170 | pathogenic | not provided | 2022-02-04 | 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 at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 29034068, 31526516, 33562844) |
Invitae | RCV002032642 | SCV002245812 | pathogenic | DYRK1A-related intellectual disability syndrome | 2021-12-03 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Lys406Argfs*44) 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). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1254755). This premature translational stop signal has been observed in individual(s) with clinical features of DYRK1A-related conditions (PMID: 29034068). This variant is not present in population databases (gnomAD no frequency). |