ClinVar Miner

Submissions for variant NM_001297.5(CNGB1):c.1089GGA[4] (p.Glu371del)

dbSNP: rs141566950
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000603552 SCV000727630 likely benign not specified 2018-02-07 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001860327 SCV002116500 uncertain significance not provided 2022-06-04 criteria provided, single submitter clinical testing 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 515497). This variant has not been reported in the literature in individuals affected with CNGB1-related conditions. 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, c.1101_1103del, results in the deletion of 1 amino acid(s) of the CNGB1 protein (p.Glu371del), but otherwise preserves the integrity of the reading frame.

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