ClinVar Miner

Submissions for variant NM_001297.5(CNGB1):c.1210-2A>G

gnomAD frequency: 0.00003  dbSNP: rs373232101
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001044110 SCV001207887 likely pathogenic not provided 2021-08-09 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 15 of the CNGB1 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 CNGB1 are known to be pathogenic (PMID: 15557452, 24043777). This variant is present in population databases (rs373232101, ExAC 0.009%). Disruption of this splice site has been observed in individual(s) with retinitis pigmentosa (PMID: 31980526). ClinVar contains an entry for this variant (Variation ID: 841809). 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 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.
Fulgent Genetics, Fulgent Genetics RCV002489581 SCV002781544 likely pathogenic Retinitis pigmentosa 45 2022-03-18 criteria provided, single submitter clinical testing

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