Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Rare Disease Group, |
RCV000754948 | SCV000788373 | pathogenic | Jeune thoracic dystrophy | 2018-05-01 | criteria provided, single submitter | research | |
ARUP Laboratories, |
RCV002227206 | SCV002506241 | pathogenic | Asphyxiating thoracic dystrophy 3 | 2022-01-26 | criteria provided, single submitter | clinical testing | The DYNC2H1 c.2574+1G>A variant (rs1565329461) is reported in the literature in the compound heterozygous state in an individual from a rare disease cohort, although the specific phenotype was not provided (Stranneheim 2021). This variant is also reported in ClinVar (Variation ID: 558750), but is absent from the Genome Aggregation Database, indicating it is not a common polymorphism. This variant disrupts the canonical splice donor site of intron 17, which is likely to negatively impact gene function. Based on available information, this variant is considered to be pathogenic. References: Stranneheim H et al, Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients. Genome Med. 2021 Mar 17;13(1):40. PMID: 33726816. |
Gene |
RCV003319397 | SCV004023673 | likely pathogenic | not provided | 2023-02-02 | criteria provided, single submitter | clinical testing | Reported with a second variant (phase unknown) in a patient in published literature (Stranneheim et al., 2021); clinical information not provided; Canonical splice site variant predicted to result in a null allele 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: 33726816) |