ClinVar Miner

Submissions for variant NM_052989.3(IFT122):c.1220A>G (p.Glu407Gly)

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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 RCV002636326 SCV002977611 uncertain significance Cranioectodermal dysplasia 1 2022-07-30 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.02%), including at least one homozygous and/or hemizygous individual. 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. 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"). This variant has not been reported in the literature in individuals affected with IFT122-related conditions. This sequence change replaces glutamic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 458 of the IFT122 protein (p.Glu458Gly).
Fulgent Genetics, Fulgent Genetics RCV002636326 SCV005659553 uncertain significance Cranioectodermal dysplasia 1 2024-03-20 criteria provided, single submitter clinical testing

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