ClinVar Miner

Submissions for variant NM_019098.5(CNGB3):c.441G>T (p.Lys147Asn)

gnomAD frequency: 0.00001  dbSNP: rs769966310
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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 RCV001230020 SCV001402487 uncertain significance not provided 2021-08-28 criteria provided, single submitter clinical testing This sequence change replaces lysine with asparagine at codon 147 of the CNGB3 protein (p.Lys147Asn). The lysine residue is highly conserved and there is a moderate physicochemical difference between lysine and asparagine. This variant is present in population databases (rs769966310, ExAC 0.01%). This variant has not been reported in the literature in individuals affected with CNGB3-related conditions. 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 disruptive. 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 RCV004609683 SCV005109353 uncertain significance Inborn genetic diseases 2024-05-23 criteria provided, single submitter clinical testing The c.441G>T (p.K147N) alteration is located in exon 4 (coding exon 4) of the CNGB3 gene. This alteration results from a G to T substitution at nucleotide position 441, causing the lysine (K) at amino acid position 147 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001833988 SCV002076107 uncertain significance Achromatopsia 2020-03-10 no assertion criteria provided clinical testing

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