ClinVar Miner

Submissions for variant NM_019098.5(CNGB3):c.991-1_992del

dbSNP: rs755733512
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002037058 SCV002318317 likely pathogenic not provided 2021-10-10 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. This variant is also known as c.991-3delTAG. Disruption of this splice site has been observed in individual(s) with achromatopsia (PMID: 32856788). This variant is present in population databases (rs755733512, ExAC 0.02%). This sequence change affects a splice site in intron 8 of the CNGB3 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 CNGB3 are known to be pathogenic (PMID: 28795510).

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