Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000627230 | SCV000748219 | pathogenic | not provided | 2018-03-28 | criteria provided, single submitter | clinical testing | The R495X variant in the MID1 gene has been reported previously in association with Opitz G/BBB syndrome (Cox et al., 2000; De Falco et al., 2003). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R495X variant is observed in 1/79864 (0.0013%) allele from individuals of non-Finnish European background in large population cohorts, and this individual was not reported to be hemizygous (Lek et al., 2016). We interpret R495X as a pathogenic variant. |
Center for Human Genetics, |
RCV000659854 | SCV000781733 | pathogenic | X-linked Opitz G/BBB syndrome | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000627230 | SCV004300096 | pathogenic | not provided | 2023-04-03 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 523781). This premature translational stop signal has been observed in individual(s) with Opitz syndrome (PMID: 11030761). This variant is present in population databases (rs745554420, gnomAD 0.001%). This sequence change creates a premature translational stop signal (p.Arg495*) in the MID1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MID1 are known to be pathogenic (PMID: 15558842, 17221865, 21326312). |
Gene |
RCV000659854 | SCV002567818 | not provided | X-linked Opitz G/BBB syndrome | no assertion provided | literature only |