ClinVar Miner

Submissions for variant NM_052989.3(IFT122):c.42T>C (p.Cys14=)

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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 RCV002599738 SCV003501360 uncertain significance Cranioectodermal dysplasia 1 2022-04-03 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with IFT122-related conditions. This variant is present in population databases (rs545154429, gnomAD 0.006%), including at least one homozygous and/or hemizygous individual. This sequence change affects codon 14 of the IFT122 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the IFT122 protein. It affects a nucleotide within the consensus splice site. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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.

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