ClinVar Miner

Submissions for variant NM_052989.3(IFT122):c.1760G>A (p.Arg587Gln)

gnomAD frequency: 0.00006  dbSNP: rs146270512
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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 RCV001883999 SCV002148266 uncertain significance Cranioectodermal dysplasia 1 2022-08-09 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with IFT122-related conditions. 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glutamine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 1387338). This variant is present in population databases (rs146270512, gnomAD 0.02%). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 638 of the IFT122 protein (p.Arg638Gln).
Fulgent Genetics, Fulgent Genetics RCV001883999 SCV002793317 uncertain significance Cranioectodermal dysplasia 1 2021-12-10 criteria provided, single submitter clinical testing

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