ClinVar Miner

Submissions for variant NM_019098.5(CNGB3):c.1924G>A (p.Ala642Thr)

gnomAD frequency: 0.00005  dbSNP: rs371424750
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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 RCV001224219 SCV001396403 uncertain significance not provided 2022-03-13 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 642 of the CNGB3 protein (p.Ala642Thr). This variant is present in population databases (rs371424750, gnomAD 0.006%). 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: 952162). 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.
Natera, Inc. RCV001833940 SCV002076054 uncertain significance Achromatopsia 2020-06-15 no assertion criteria provided clinical testing

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