ClinVar Miner

Submissions for variant NC_000003.11:g.(?_129159174)_(129214470_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001947017 SCV002240507 pathogenic Cranioectodermal dysplasia 1 2021-09-15 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with IFT122-related conditions. This variant is a gross deletion of the genomic region encompassing exon(s) 1-19 of the IFT122 gene, which includes the initiator codon. This deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in IFT122 are known to be pathogenic (PMID: 20493458, 23826986, 26792575).

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