ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.2578-2A>G

gnomAD frequency: 0.00001  dbSNP: rs2040685752
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001973205 SCV002255602 likely pathogenic Saldino-Mainzer syndrome 2022-09-29 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 20 of the IFT140 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 IFT140 are known to be pathogenic (PMID: 22503633, 23418020, 24009529, 26216056). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 1470201). This variant has not been reported in the literature in individuals affected with IFT140-related conditions. This variant is not present in population databases (gnomAD no frequency).
Fulgent Genetics, Fulgent Genetics RCV002492177 SCV002781735 likely pathogenic Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2021-07-21 criteria provided, single submitter clinical testing

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