ClinVar Miner

Submissions for variant NM_000127.3(EXT1):c.963-2A>G

dbSNP: rs1554580162
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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 RCV000630809 SCV000751776 pathogenic Multiple congenital exostosis 2019-05-27 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 individuals affected with multiple osteochondromas (PMID: 15586175, Invitae). ClinVar contains an entry for this variant (Variation ID: 526302). This variant is not present in population databases (ExAC no frequency). This sequence change affects an acceptor splice site in intron 1 of the EXT1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.
Baylor Genetics RCV000630809 SCV001522604 pathogenic Multiple congenital exostosis 2019-03-11 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. This variant has been previously reported as disease causing [PMID 15586175, 25525159]

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