Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001858614 | SCV002206834 | pathogenic | not provided | 2022-06-27 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 800989). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This premature translational stop signal has been observed in individual(s) with 3M syndrome (PMID: 22325252). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change creates a premature translational stop signal (p.Arg382*) in the CUL7 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CUL7 are known to be pathogenic (PMID: 16142236, 17675530, 19225462). |
Biochemical Molecular Genetic Laboratory, |
RCV000985217 | SCV001133247 | uncertain significance | 3M syndrome 1 | 2019-09-26 | no assertion criteria provided | clinical testing |