Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000578723 | SCV000680519 | pathogenic | not provided | 2023-04-13 | 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; Published functional studies demonstrate a damaging effect, as variant results in absence of protein due to proteolytic degradation (Davis et al., 2004); This variant is associated with the following publications: (PMID: 23113554, 18318771, 23594618, 29375859, 31898843, 25525159, 15953014, 18202104, 15488472, 10874300) |
Revvity Omics, |
RCV003485516 | SCV004235469 | pathogenic | Deficiency of cytochrome-b5 reductase | 2023-06-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000578723 | SCV004300035 | pathogenic | not provided | 2023-01-20 | criteria provided, single submitter | clinical testing | This premature translational stop signal has been observed in individual(s) with methemoglobinemia type II (PMID: 10874300). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 248). This variant is present in population databases (rs61732609, gnomAD 0.006%). This sequence change creates a premature translational stop signal (p.Arg160*) in the CYB5R3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CYB5R3 are known to be pathogenic (PMID: 18318771). |
OMIM | RCV000000272 | SCV000020416 | pathogenic | Methemoglobinemia type 2 | 2000-01-01 | no assertion criteria provided | literature only |