ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.2501G>A (p.Arg834Gln)

gnomAD frequency: 0.00004  dbSNP: rs771116194
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514519 SCV000610410 uncertain significance not provided 2017-06-26 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001120816 SCV001279325 uncertain significance Saldino-Mainzer syndrome 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Invitae RCV001120816 SCV001486532 uncertain significance Saldino-Mainzer syndrome 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 834 of the IFT140 protein (p.Arg834Gln). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs771116194, ExAC 0.02%). This variant has not been reported in the literature in individuals affected with IFT140-related conditions. ClinVar contains an entry for this variant (Variation ID: 445742). 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 RCV002490871 SCV002800103 uncertain significance Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2021-10-14 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003889919 SCV004704993 uncertain significance Retinal dystrophy 2023-10-01 criteria provided, single submitter research

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