ClinVar Miner

Submissions for variant NM_000127.3(EXT1):c.1722+1G>T

dbSNP: rs1823350857
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001070102 SCV001235314 pathogenic Multiple congenital exostosis 2019-12-02 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. This variant has been observed in individual(s) with multiple osteochondromas (PMID: 18165274). This variant is not present in population databases (ExAC no frequency). This sequence change affects a donor 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.
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital RCV004798884 SCV005420827 pathogenic Exostoses 2024-10-04 criteria provided, single submitter research PVS1,PM2,PS4

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