ClinVar Miner

Submissions for variant NM_019098.5(CNGB3):c.1696C>T (p.His566Tyr)

gnomAD frequency: 0.00004  dbSNP: rs144605411
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001245381 SCV001418664 uncertain significance not provided 2024-10-21 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with tyrosine, which is neutral and polar, at codon 566 of the CNGB3 protein (p.His566Tyr). This variant is present in population databases (rs144605411, gnomAD 0.02%). 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: 969924). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt CNGB3 protein function with a negative predictive value of 95%. 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.
Fulgent Genetics, Fulgent Genetics RCV002491826 SCV002775331 uncertain significance Achromatopsia 3 2022-02-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV004034825 SCV004929178 uncertain significance Inborn genetic diseases 2024-02-28 criteria provided, single submitter clinical testing The c.1696C>T (p.H566Y) alteration is located in exon 15 (coding exon 15) of the CNGB3 gene. This alteration results from a C to T substitution at nucleotide position 1696, causing the histidine (H) at amino acid position 566 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001835238 SCV002076063 uncertain significance Achromatopsia 2020-04-14 no assertion criteria provided clinical testing

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