ClinVar Miner

Submissions for variant NM_014862.4(ARNT2):c.495C>G (p.Asp165Glu)

gnomAD frequency: 0.00001  dbSNP: rs768779815
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002626485 SCV002964726 uncertain significance not provided 2022-03-17 criteria provided, single submitter clinical testing This variant is present in population databases (rs768779815, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with ARNT2-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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. This sequence change replaces aspartic acid, which is acidic and polar, with glutamic acid, which is acidic and polar, at codon 165 of the ARNT2 protein (p.Asp165Glu).

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