ClinVar Miner

Submissions for variant NM_025103.4(IFT74):c.32G>T (p.Arg11Leu)

dbSNP: rs369587850
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001982549 SCV002222667 uncertain significance not provided 2022-08-16 criteria provided, single submitter clinical testing 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. This sequence change replaces arginine, which is basic and polar, with leucine, which is neutral and non-polar, at codon 11 of the IFT74 protein (p.Arg11Leu). This variant is present in population databases (rs369587850, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with IFT74-related conditions. ClinVar contains an entry for this variant (Variation ID: 1444693). 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.

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