Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clinical Genetics and Genomics, |
RCV001269995 | SCV001450402 | pathogenic | not provided | 2018-10-24 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001269995 | SCV002540528 | pathogenic | not provided | 2022-01-18 | 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 not a known mechanism of disease; Functional studies demonstrate a damaging effect on GP130-dependant activation of STAT3 (Chen et al., 2020); Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 31130284, 33726816, 31914175) |
Rare Disease Group, |
RCV000984613 | SCV000925665 | pathogenic | Stuve-Wiedemann syndrome | 2019-06-24 | no assertion criteria provided | clinical testing | This homozygous nonsense variant was found in two siblings. One termination of pregnancy and an affected sister deceased two days after birth. Parents are heterozygous carriers. Functional studies shows that this Arg281* variant disrupts normal protein function. In summary, the Arg281* variant meets our criteria to be classified as pathogenic. |
OMIM | RCV001836880 | SCV002097633 | pathogenic | Stuve-Wiedemann syndrome 2 | 2022-02-16 | no assertion criteria provided | literature only |