ClinVar Miner

Submissions for variant NM_001297.5(CNGB1):c.2239C>A (p.Pro747Thr)

gnomAD frequency: 0.00002  dbSNP: rs974336687
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001074899 SCV001240503 uncertain significance Retinal dystrophy 2019-08-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001233130 SCV001405712 uncertain significance not provided 2022-06-13 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. 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: 866680). This variant has not been reported in the literature in individuals affected with CNGB1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.01%). This sequence change replaces proline, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 747 of the CNGB1 protein (p.Pro747Thr).
Ambry Genetics RCV004609618 SCV005109347 uncertain significance Inborn genetic diseases 2024-06-16 criteria provided, single submitter clinical testing The c.2239C>A (p.P747T) alteration is located in exon 23 (coding exon 22) of the CNGB1 gene. This alteration results from a C to A substitution at nucleotide position 2239, causing the proline (P) at amino acid position 747 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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