ClinVar Miner

Submissions for variant NM_001297.5(CNGB1):c.1958-1G>A

dbSNP: rs888090139
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000989611 SCV001140117 pathogenic Retinitis pigmentosa 2019-05-28 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001073842 SCV001239406 likely pathogenic Retinal dystrophy 2018-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001858711 SCV002230722 pathogenic not provided 2024-10-29 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 20 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 (no rsID available, gnomAD no frequency). Disruption of this splice site has been observed in individuals with retinitis pigmentosa (internal data). ClinVar contains an entry for this variant (Variation ID: 803260). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
3billion, Medical Genetics RCV002250710 SCV002521576 pathogenic Retinitis pigmentosa 45 2022-05-22 criteria provided, single submitter clinical testing The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: <0.001%). Canonical splice site: predicted to alter splicing and result in a loss or disruption of normal protein function. Multiple pathogenic loss-of-function variants are reported downstream of the variant. The variant has been reported at least twice as pathogenic without evidence for the classification (ClinVar ID: VCV000803260). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV001073842 SCV005071611 pathogenic Retinal dystrophy 2022-01-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002250710 SCV005640274 pathogenic Retinitis pigmentosa 45 2024-02-15 criteria provided, single submitter clinical testing

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