ClinVar Miner

Submissions for variant NM_177972.3(TUB):c.1215+1G>A

dbSNP: rs1589996458
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network, NIH RCV000991211 SCV001142590 likely pathogenic Retinal dystrophy and obesity 2019-08-26 criteria provided, single submitter clinical testing
Ocular Genomics Institute, Massachusetts Eye and Ear 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).

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