ClinVar Miner

Submissions for variant NM_020800.3(IFT80):c.2100G>C (p.Arg700Ser)

gnomAD frequency: 0.00006  dbSNP: rs373671362
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001207588 SCV001378950 uncertain significance Jeune thoracic dystrophy 2022-10-17 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with serine, which is neutral and polar, at codon 700 of the IFT80 protein (p.Arg700Ser). This variant is present in population databases (rs373671362, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with IFT80-related conditions. ClinVar contains an entry for this variant (Variation ID: 938382). 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 disruptive. 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.

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