ClinVar Miner

Submissions for variant NM_033028.5(BBS4):c.1107-10_1107-7del

dbSNP: rs770577174
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, Institute for Ophthalmic Research RCV001199439 SCV001162422 pathogenic Retinitis pigmentosa 2020-01-09 criteria provided, single submitter research
Blueprint Genetics RCV001073390 SCV001238931 uncertain significance Retinal dystrophy 2019-01-13 criteria provided, single submitter clinical testing
Invitae RCV002549225 SCV003024277 uncertain significance Bardet-Biedl syndrome 2022-08-16 criteria provided, single submitter clinical testing This sequence change falls in intron 13 of the BBS4 gene. It does not directly change the encoded amino acid sequence of the BBS4 protein. This variant is present in population databases (rs770577174, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with BBS4-related conditions. ClinVar contains an entry for this variant (Variation ID: 813022). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.

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