ClinVar Miner

Submissions for variant NM_052989.3(IFT122):c.273-346C>T

gnomAD frequency: 0.00004  dbSNP: rs778846137
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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 RCV001866892 SCV002119759 uncertain significance Cranioectodermal dysplasia 1 2023-06-23 criteria provided, single submitter clinical testing This variant is present in population databases (rs778846137, gnomAD 0.005%). This variant has not been reported in the literature in individuals affected with IFT122-related conditions. ClinVar contains an entry for this variant (Variation ID: 1355382). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests 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. This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 101 of the IFT122 protein (p.Leu101Phe).
Fulgent Genetics, Fulgent Genetics RCV001866892 SCV002786985 uncertain significance Cranioectodermal dysplasia 1 2022-04-02 criteria provided, single submitter clinical testing

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