ClinVar Miner

Submissions for variant NM_052989.3(IFT122):c.3053C>G (p.Ala1018Gly)

gnomAD frequency: 0.00002  dbSNP: rs767833675
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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 RCV001878546 SCV002118120 uncertain significance Cranioectodermal dysplasia 1 2021-08-26 criteria provided, single submitter clinical testing This sequence change replaces alanine with glycine at codon 1069 of the IFT122 protein (p.Ala1069Gly). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and glycine. This variant is present in population databases (rs767833675, ExAC 0.006%). This variant has not been reported in the literature in individuals affected with IFT122-related conditions. 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"). 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 RCV001878546 SCV002794244 uncertain significance Cranioectodermal dysplasia 1 2022-02-03 criteria provided, single submitter clinical testing

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