ClinVar Miner

Submissions for variant NM_052989.3(IFT122):c.2888A>G (p.Glu963Gly)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002606434 SCV003504422 uncertain significance Cranioectodermal dysplasia 1 2021-12-20 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. 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. This variant has not been reported in the literature in individuals affected with IFT122-related conditions. This variant is present in population databases (rs369704793, gnomAD 0.004%). This sequence change replaces glutamic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 1014 of the IFT122 protein (p.Glu1014Gly).
Fulgent Genetics, Fulgent Genetics RCV002606434 SCV005661393 uncertain significance Cranioectodermal dysplasia 1 2024-06-09 criteria provided, single submitter clinical testing

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