ClinVar Miner

Submissions for variant NM_052989.3(IFT122):c.231TAT[1] (p.Ile79del)

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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 RCV003065651 SCV003459010 uncertain significance Cranioectodermal dysplasia 1 2022-02-10 criteria provided, single submitter clinical testing This variant, c.234_236del, results in the deletion of 1 amino acid(s) of the IFT122 protein (p.Ile79del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (no rsID available, gnomAD 0.003%). 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with IFT122-related conditions.

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