ClinVar Miner

Submissions for variant NM_001297.5(CNGB1):c.1080AGAGGA[1] (p.Glu370_Glu371del)

dbSNP: rs750979647
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001982633 SCV002223569 uncertain significance not provided 2022-09-19 criteria provided, single submitter clinical testing This variant, c.1086_1091del, results in the deletion of 2 amino acid(s) of the CNGB1 protein (p.Glu370_Glu371del), but otherwise preserves the integrity of the reading frame. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with CNGB1-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
Breakthrough Genomics, Breakthrough Genomics RCV001982633 SCV005194425 uncertain significance not provided criteria provided, single submitter not provided
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004816805 SCV005070846 uncertain significance Retinal dystrophy 2017-01-01 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004758205 SCV005359953 uncertain significance CNGB1-related disorder 2024-08-22 no assertion criteria provided clinical testing The CNGB1 c.1086_1091del6 variant is predicted to result in an in-frame deletion (p.Glu370_Glu371del). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.062% of alleles in individuals of South Asian descent in gnomAD, which may be too common to be an undocumented cause of disease. Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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