ClinVar Miner

Submissions for variant NM_020800.3(IFT80):c.2225T>A (p.Leu742His)

gnomAD frequency: 0.00002  dbSNP: rs763284318
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001233571 SCV001406173 uncertain significance Jeune thoracic dystrophy 2023-12-11 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with histidine, which is basic and polar, at codon 742 of the IFT80 protein (p.Leu742His). This variant is present in population databases (no rsID available, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with IFT80-related conditions. ClinVar contains an entry for this variant (Variation ID: 960108). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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.
GenomeConnect - Invitae Patient Insights Network RCV003483802 SCV004228909 not provided Asphyxiating thoracic dystrophy 2 no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 03-24-2021 by Lab Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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