ClinVar Miner

Submissions for variant NM_001102564.3(IFT43):c.296-5686_296-5685del

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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 RCV002690083 SCV002991509 pathogenic not provided 2022-11-08 criteria provided, single submitter clinical testing This variant is present in population databases (rs750135817, gnomAD 0.01%). This sequence change creates a premature translational stop signal (p.Gly77Glnfs*62) in the IFT43 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in IFT43 are known to be pathogenic (PMID: 21378380, 28400947). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with IFT43-related conditions.
Revvity Omics, Revvity RCV002690083 SCV003813256 uncertain significance not provided 2019-08-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005002870 SCV005633354 likely pathogenic Cranioectodermal dysplasia 3; Short-rib thoracic dysplasia 18 with polydactyly; Retinitis pigmentosa 81 2023-12-29 criteria provided, single submitter clinical testing

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