ClinVar Miner

Submissions for variant NM_000127.3(EXT1):c.1249del (p.Ser417fs)

dbSNP: rs2129772077
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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 RCV003499368 SCV004334515 pathogenic Multiple congenital exostosis 2023-10-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser417Leufs*8) in the EXT1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in EXT1 are known to be pathogenic (PMID: 10679937, 11391482, 19810120). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with EXT1-related conditions. For these reasons, this variant has been classified as Pathogenic.

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