Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Human Genetics, |
RCV000659849 | SCV000781728 | pathogenic | X-linked Opitz G/BBB syndrome | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001007969 | SCV001167699 | pathogenic | not provided | 2020-06-29 | criteria provided, single submitter | clinical testing | Reported previously in multiple individuals with Opitz syndrome (Pinson et al., 2004; So et al., 2005); 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; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 26663670, 25525159, 15121778, 18697196, 25304119, 15558842) |
Génétique des Maladies du Développement, |
RCV001263107 | SCV001441184 | pathogenic | Dandy-Walker syndrome | 2020-10-30 | criteria provided, single submitter | clinical testing | Nonsense variant absent from gnomAD de novo. 20A4507 |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000659849 | SCV001737751 | pathogenic | X-linked Opitz G/BBB syndrome | 2021-05-28 | criteria provided, single submitter | clinical testing | Variant summary: MID1 c.829C>T (p.Arg277X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant was absent in 183045 control chromosomes (gnomAD). c.829C>T has been reported in the literature in individuals affected with Opitz GBBB Syndrome, Type I (Pinson_2004, So_2005). These data indicate that the variant may be associated with disease. Three ClinVar submitters (evaluation after 2014) cite the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. |
Gene |
RCV000659849 | SCV002567816 | not provided | X-linked Opitz G/BBB syndrome | no assertion provided | literature only |