ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.2767_2768+2del

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001069954 SCV001235154 likely pathogenic Saldino-Mainzer syndrome 2019-12-06 criteria provided, single submitter clinical testing This variant results in the deletion of part of exon 21 (c.2767_2768+2del) of the IFT140 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with IFT140-related conditions. 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.
Blueprint Genetics RCV001075635 SCV001241262 likely pathogenic Retinal dystrophy 2019-02-22 criteria provided, single submitter clinical testing

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