ClinVar Miner

Submissions for variant NM_207122.2(EXT2):c.1080-1G>A

dbSNP: rs2135029007
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001881259 SCV002137755 pathogenic Exostoses, multiple, type 2 2021-09-15 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. Disruption of this splice site has been observed in individual(s) with multiple osteochondromas (PMID: 15586175; Invitae). This sequence change affects an acceptor splice site in intron 6 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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