ClinVar Miner

Submissions for variant NM_000127.3(EXT1):c.1723-2A>T

dbSNP: rs1823255835
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001231309 SCV001403826 pathogenic Multiple congenital exostosis 2019-08-08 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 EXT1 are known to be pathogenic (PMID: 10679937, 11391482, 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. Disruption of this splice site has been observed in individuals affected with multiple osteochondromas (PMID: 18165274, 30334991). This variant is not present in population databases (ExAC no frequency). This sequence change affects an acceptor splice site in intron 8 of the EXT1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.
MGZ Medical Genetics Center RCV002290648 SCV002581581 likely pathogenic Exostoses, multiple, type 1 2022-03-23 criteria provided, single submitter clinical testing

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