ClinVar Miner

Submissions for variant NM_052989.3(IFT122):c.2536C>T (p.Arg846Cys)

gnomAD frequency: 0.00001  dbSNP: rs750010740
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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 RCV001936538 SCV002203655 uncertain significance Cranioectodermal dysplasia 1 2021-11-28 criteria provided, single submitter clinical testing 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 missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15". The cysteine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This variant has not been reported in the literature in individuals affected with IFT122-related conditions. This variant is present in population databases (rs750010740, gnomAD 0.01%). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 897 of the IFT122 protein (p.Arg897Cys).
Ambry Genetics RCV002560615 SCV003603765 uncertain significance Inborn genetic diseases 2023-12-22 criteria provided, single submitter clinical testing The c.2689C>T (p.R897C) alteration is located in exon 21 (coding exon 21) of the IFT122 gene. This alteration results from a C to T substitution at nucleotide position 2689, causing the arginine (R) at amino acid position 897 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV001936538 SCV005661368 uncertain significance Cranioectodermal dysplasia 1 2024-04-23 criteria provided, single submitter clinical testing

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