ClinVar Miner

Submissions for variant NM_052989.3(IFT122):c.3638T>C (p.Met1213Thr)

gnomAD frequency: 0.00050  dbSNP: rs140623081
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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 RCV002019446 SCV002283030 uncertain significance Cranioectodermal dysplasia 1 2022-09-01 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1264 of the IFT122 protein (p.Met1264Thr). This variant is present in population databases (rs140623081, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with IFT122-related conditions. ClinVar contains an entry for this variant (Variation ID: 1497496). 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: "Benign"; Align-GVGD: "Class C25"). 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 RCV002019446 SCV002787262 uncertain significance Cranioectodermal dysplasia 1 2022-04-13 criteria provided, single submitter clinical testing

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