Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV000756417 | SCV000884226 | pathogenic | not provided | 2017-07-19 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000756417 | SCV001769578 | likely pathogenic | not provided | 2019-04-24 | 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: 31589614, 27530628, 27455347, 29068549) |
Revvity Omics, |
RCV000515987 | SCV002018293 | pathogenic | Short-rib thoracic dysplasia 6 with or without polydactyly | 2019-12-18 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000515987 | SCV002316176 | likely pathogenic | Short-rib thoracic dysplasia 6 with or without polydactyly | 2023-05-29 | criteria provided, single submitter | clinical testing | This premature translational stop signal has been observed in individual(s) with clinical features of a skeletal ciliopathy (PMID: 27530628, 29068549). It has also been observed to segregate with disease in related individuals. This variant is present in population databases (no rsID available, gnomAD 0.004%). This sequence change creates a premature translational stop signal (p.Trp409*) in the NEK1 gene. RNA analysis indicates that this premature translational stop signal induces altered splicing and likely results in a shortened protein product. ClinVar contains an entry for this variant (Variation ID: 446672). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Studies have shown that this premature translational stop signal results in skipping of exon 15, but is expected to preserve the integrity of the reading-frame (PMID: 27530628). |
Dan Cohn Lab, |
RCV000515987 | SCV000612098 | pathogenic | Short-rib thoracic dysplasia 6 with or without polydactyly | 2017-06-01 | no assertion criteria provided | research | |
University of Washington Center for Mendelian Genomics, |
RCV000515987 | SCV001479757 | likely pathogenic | Short-rib thoracic dysplasia 6 with or without polydactyly | no assertion criteria provided | research | ||
OMIM | RCV003766906 | SCV004697436 | pathogenic | Mohr syndrome | 2024-02-20 | no assertion criteria provided | literature only |