ClinVar Miner

Submissions for variant NM_052989.3(IFT122):c.2992A>G (p.Ile998Val)

gnomAD frequency: 0.00009  dbSNP: rs115715082
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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 RCV001925785 SCV002180765 uncertain significance Cranioectodermal dysplasia 1 2022-06-13 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1049 of the IFT122 protein (p.Ile1049Val). This variant is present in population databases (rs115715082, gnomAD 0.03%). 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. 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.
Fulgent Genetics, Fulgent Genetics RCV001925785 SCV002816984 uncertain significance Cranioectodermal dysplasia 1 2021-07-15 criteria provided, single submitter clinical testing

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