ClinVar Miner

Submissions for variant NM_052989.3(IFT122):c.3521G>A (p.Arg1174His)

gnomAD frequency: 0.00003  dbSNP: rs143602964
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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 RCV002006719 SCV002295075 uncertain significance Cranioectodermal dysplasia 1 2021-12-03 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 1225 of the IFT122 protein (p.Arg1225His). This variant is present in population databases (rs143602964, gnomAD 0.01%). 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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 RCV002006719 SCV002775957 uncertain significance Cranioectodermal dysplasia 1 2022-05-06 criteria provided, single submitter clinical testing

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