ClinVar Miner

Submissions for variant NM_000127.3(EXT1):c.1192C>T (p.Gln398Ter)

dbSNP: rs561006425
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001050372 SCV001214475 pathogenic Multiple congenital exostosis 2021-08-09 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in EXT1 are known to be pathogenic (PMID: 10679937, 11391482, 19810120). This variant has been observed in an individual affected with multiple osteochondromas (PMID: 17041877). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln398*) in the EXT1 gene. It is expected to result in an absent or disrupted protein product.

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