Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000790799 | SCV000224820 | pathogenic | not provided | 2012-11-07 | criteria provided, single submitter | clinical testing | |
Center for Human Genetics, |
RCV000173680 | SCV000781737 | pathogenic | X-linked Opitz G/BBB syndrome | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000790799 | SCV003444466 | pathogenic | not provided | 2022-05-25 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.His600Profs*12) in the MID1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 68 amino acid(s) of the MID1 protein. This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with clinical features of Opitz GBBB syndrome (PMID: 32926417; Invitae). In at least one individual the variant was observed to be de novo. This variant is also known as c.1798_1799-insC. ClinVar contains an entry for this variant (Variation ID: 92876). For these reasons, this variant has been classified as Pathogenic. |