ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.3581A>G (p.Gln1194Arg)

gnomAD frequency: 0.00001  dbSNP: rs754978656
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001074433 SCV001240017 uncertain significance Retinal dystrophy 2017-02-19 criteria provided, single submitter clinical testing
Invitae RCV001862827 SCV002197916 uncertain significance Saldino-Mainzer syndrome 2022-06-29 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 1194 of the IFT140 protein (p.Gln1194Arg). This variant is present in population databases (rs754978656, gnomAD 0.01%). 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: 866425). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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 RCV002482154 SCV002787364 uncertain significance Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2022-04-28 criteria provided, single submitter clinical testing

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