ClinVar Miner

Submissions for variant NM_001297.5(CNGB1):c.1799C>T (p.Pro600Leu)

gnomAD frequency: 0.00001  dbSNP: rs747968794
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002048857 SCV002314427 uncertain significance not provided 2022-08-21 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 600 of the CNGB1 protein (p.Pro600Leu). This variant is present in population databases (rs747968794, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with CNGB1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1523208). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
Ambry Genetics RCV002549034 SCV003752470 uncertain significance Inborn genetic diseases 2022-05-27 criteria provided, single submitter clinical testing The c.1799C>T (p.P600L) alteration is located in exon 19 (coding exon 18) of the CNGB1 gene. This alteration results from a C to T substitution at nucleotide position 1799, causing the proline (P) at amino acid position 600 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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