ClinVar Miner

Submissions for variant NM_052989.3(IFT122):c.877G>A (p.Glu293Lys)

gnomAD frequency: 0.00001  dbSNP: rs775510906
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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 RCV000792192 SCV000931472 uncertain significance Cranioectodermal dysplasia 1 2018-10-15 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 glutamic acid with lysine at codon 344 of the IFT122 protein (p.Glu344Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is present in population databases (rs775510906, ExAC 0.01%). This variant has not been reported in the literature in individuals with IFT122-related disease. 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: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0").

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