ClinVar Miner

Submissions for variant NM_052989.3(IFT122):c.1148-1G>C

gnomAD frequency: 0.00002  dbSNP: rs755005244
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000728677 SCV000856280 pathogenic not provided 2017-08-09 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002477685 SCV002781223 likely pathogenic Cranioectodermal dysplasia 1 2021-07-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002477685 SCV004550602 likely pathogenic Cranioectodermal dysplasia 1 2023-02-17 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 593588). This sequence change affects an acceptor splice site in intron 12 of the IFT122 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in IFT122 are known to be pathogenic (PMID: 20493458, 23826986, 26792575). This variant is present in population databases (rs755005244, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with IFT122-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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