ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.2279G>A (p.Arg760Gln)

gnomAD frequency: 0.00001  dbSNP: rs780086795
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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 RCV002027798 SCV002316973 uncertain significance Saldino-Mainzer syndrome 2021-09-19 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 760 of the IFT140 protein (p.Arg760Gln). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs780086795, ExAC 0.006%). This variant has not been reported in the literature in individuals affected with IFT140-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: "Tolerated"; 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.
Dept Of Ophthalmology, Nagoya University RCV003889010 SCV004704999 uncertain significance Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Fulgent Genetics, Fulgent Genetics RCV005017093 SCV005642810 uncertain significance Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2024-02-04 criteria provided, single submitter clinical testing

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