ClinVar Miner

Submissions for variant NM_052989.3(IFT122):c.1199G>A (p.Arg400Gln)

dbSNP: rs1405512091
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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 RCV001955350 SCV002208874 uncertain significance Cranioectodermal dysplasia 1 2022-02-22 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with IFT122-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: "Probably Damaging"; 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 variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 451 of the IFT122 protein (p.Arg451Gln).
Fulgent Genetics, Fulgent Genetics RCV001955350 SCV005659551 uncertain significance Cranioectodermal dysplasia 1 2023-12-29 criteria provided, single submitter clinical testing

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