ClinVar Miner

Submissions for variant NM_052989.3(IFT122):c.1759C>T (p.Arg587Trp)

gnomAD frequency: 0.00001  dbSNP: rs774723842
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001965119 SCV002215905 uncertain significance Cranioectodermal dysplasia 1 2022-03-11 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 638 of the IFT122 protein (p.Arg638Trp). This variant is present in population databases (rs774723842, gnomAD 0.003%). 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: "Possibly Damaging"; 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 RCV001965119 SCV002803953 uncertain significance Cranioectodermal dysplasia 1 2021-11-22 criteria provided, single submitter clinical testing
GeneDx RCV003322906 SCV004028206 uncertain significance not provided 2023-02-15 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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