ClinVar Miner

Submissions for variant NM_052989.3(IFT122):c.2599C>A (p.Pro867Thr)

gnomAD frequency: 0.00017  dbSNP: rs144831946
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001205580 SCV001376842 uncertain significance Cranioectodermal dysplasia 1 2022-09-01 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 918 of the IFT122 protein (p.Pro918Thr). This variant is present in population databases (rs144831946, gnomAD 0.05%). 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: 936724). 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: "Probably 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 RCV001205580 SCV002804002 uncertain significance Cranioectodermal dysplasia 1 2021-12-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002561191 SCV003713574 uncertain significance Inborn genetic diseases 2021-10-12 criteria provided, single submitter clinical testing The c.2752C>A (p.P918T) alteration is located in exon 22 (coding exon 22) of the IFT122 gene. This alteration results from a C to A substitution at nucleotide position 2752, causing the proline (P) at amino acid position 918 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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