ClinVar Miner

Submissions for variant NM_001297.5(CNGB1):c.2293C>T (p.Arg765Cys)

gnomAD frequency: 0.00001  dbSNP: rs771833874
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ocular Genomics Institute, Massachusetts Eye and Ear RCV001376487 SCV001573653 uncertain significance Retinitis pigmentosa 45 2021-04-08 criteria provided, single submitter research The CNGB1 c.2293C>T variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we were able to apply the following criteria: PM2. Based on this evidence we have classified this variant as Variant of Uncertain Significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV001377367 SCV001574687 likely pathogenic not provided 2023-02-11 criteria provided, single submitter clinical testing This missense change has been observed in individuals with CNGB1-related conditions (PMID: 23484092, 27874104; Invitae). 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt CNGB1 protein function. ClinVar contains an entry for this variant (Variation ID: 978970). This variant is present in population databases (rs771833874, gnomAD 0.007%). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 765 of the CNGB1 protein (p.Arg765Cys).
Fulgent Genetics, Fulgent Genetics RCV001376487 SCV005640267 likely pathogenic Retinitis pigmentosa 45 2024-01-19 criteria provided, single submitter clinical testing
Faculty of Health Sciences, Beirut Arab University RCV001257779 SCV001434642 pathogenic Autosomal recessive retinitis pigmentosa 2016-11-22 no assertion criteria provided literature only

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