Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV003116546 | SCV003795144 | pathogenic | not provided | 2022-06-16 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon(s) 8-14 of the MSTO1 gene. While this deletion is not anticipated to lead to nonsense mediated decay, it is expected to disrupt the C-terminus of the protein. This variant has not been reported in the literature in individuals affected with MSTO1-related conditions. This variant disrupts a region of the MSTO1 protein in which other variant(s) (p.Arg279His) have been determined to be pathogenic (PMID: 30684668, 31463572). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. |
| Labcorp Genetics |
RCV003109581 | SCV003791566 | uncertain significance | Noonan syndrome 8 | 2022-06-16 | flagged submission | clinical testing | A gross deletion of the genomic region encompassing the full coding sequence of the RIT1 gene has been identified. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in RIT1 cause disease. The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. This variant has not been reported in the literature in individuals affected with RIT1-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |