ClinVar Miner

Submissions for variant NM_207122.2(EXT2):c.940-2A>G

dbSNP: rs1954411419
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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 RCV001218603 SCV001390491 pathogenic Exostoses, multiple, type 2 2019-04-03 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Donor and acceptor splice site variants 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). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has been observed in individuals with hereditary multiple exostoses (PMID: 25468659, 30334991). This variant is also known as c.1039-2A>G in the literature. This variant is not present in population databases (ExAC no frequency). This sequence change affects an acceptor splice site in intron 5 of the EXT2 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.

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