ClinVar Miner

Submissions for variant NM_207122.2(EXT2):c.1489_1495+12del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003069165 SCV003466703 likely pathogenic Exostoses, multiple, type 2 2022-02-18 criteria provided, single submitter clinical testing 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. This variant has not been reported in the literature in individuals affected with EXT2-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.006%). This variant results in the deletion of part of exon 9 (c.1489_1495+12del) of the EXT2 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 EXT2 are known to be pathogenic (PMID: 10679937, 19810120).

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