ClinVar Miner

Submissions for variant NM_019098.5(CNGB3):c.968T>G (p.Phe323Cys)

gnomAD frequency: 0.00005  dbSNP: rs759770735
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001049171 SCV001213206 uncertain significance not provided 2024-01-31 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with cysteine, which is neutral and slightly polar, at codon 323 of the CNGB3 protein (p.Phe323Cys). This variant is present in population databases (rs759770735, gnomAD 0.06%). This variant has not been reported in the literature in individuals affected with CNGB3-related conditions. ClinVar contains an entry for this variant (Variation ID: 845984). 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 CNGB3 protein function with a positive predictive value of 80%. 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 RCV004973293 SCV005556952 uncertain significance Inborn genetic diseases 2024-11-21 criteria provided, single submitter clinical testing The c.968T>G (p.F323C) alteration is located in exon 8 (coding exon 8) of the CNGB3 gene. This alteration results from a T to G substitution at nucleotide position 968, causing the phenylalanine (F) at amino acid position 323 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001272486 SCV001454550 uncertain significance Achromatopsia 2020-09-16 no assertion criteria provided clinical testing

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