ClinVar Miner

Submissions for variant NM_000127.3(EXT1):c.533_534dup (p.Gln179fs)

dbSNP: rs1554601525
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000630805 SCV000751772 pathogenic Multiple congenital exostosis 2017-11-05 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with an EXT1-related disease. Loss-of-function variants in EXT1 are known to be pathogenic (PMID: 10679937, 11391482, 19810120). For these reasons, this variant has been classified as Pathogenic. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln179Cysfs*14) in the EXT1 gene. It is expected to result in an absent or disrupted protein product.

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