ClinVar Miner

Submissions for variant NM_052989.3(IFT122):c.3506G>C (p.Ser1169Thr)

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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 RCV002663128 SCV002979347 uncertain significance Cranioectodermal dysplasia 1 2022-08-09 criteria provided, single submitter clinical testing 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 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant is present in population databases (rs372561450, gnomAD 0.007%). This sequence change replaces serine, which is neutral and polar, with threonine, which is neutral and polar, at codon 1220 of the IFT122 protein (p.Ser1220Thr).
Fulgent Genetics, Fulgent Genetics RCV002663128 SCV005661433 uncertain significance Cranioectodermal dysplasia 1 2024-06-17 criteria provided, single submitter clinical testing

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