Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Undiagnosed Diseases Network, |
RCV000991211 | SCV001142590 | likely pathogenic | Retinal dystrophy and obesity | 2019-08-26 | criteria provided, single submitter | clinical testing | |
Ocular Genomics Institute, |
RCV000991211 | SCV001573582 | pathogenic | Retinal dystrophy and obesity | 2021-04-08 | criteria provided, single submitter | research | The TUB c.1380+1G>A variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we were able to apply the following criteria: PVS1, PM2, PM3. Based on this evidence we have classified this variant as Pathogenic. |
New York Genome Center | RCV000991211 | SCV002764527 | likely pathogenic | Retinal dystrophy and obesity | 2020-12-08 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002549758 | SCV003018285 | likely pathogenic | not provided | 2022-07-01 | criteria provided, single submitter | clinical testing | In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 804249). This variant has not been reported in the literature in individuals affected with TUB-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 11 of the TUB gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in TUB are known to be pathogenic (PMID: 24375934). |