ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.2543G>A (p.Arg848His)

gnomAD frequency: 0.00008  dbSNP: rs746743309
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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 RCV001062784 SCV001227606 uncertain significance Saldino-Mainzer syndrome 2022-08-09 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 848 of the IFT140 protein (p.Arg848His). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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: 857166). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The histidine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 RCV002505636 SCV002814233 uncertain significance Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2024-04-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV004030466 SCV004886179 uncertain significance Inborn genetic diseases 2024-01-23 criteria provided, single submitter clinical testing The c.2543G>A (p.R848H) alteration is located in exon 20 (coding exon 18) of the IFT140 gene. This alteration results from a G to A substitution at nucleotide position 2543, causing the arginine (R) at amino acid position 848 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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