ClinVar Miner

Submissions for variant NM_000127.3(EXT1):c.698del (p.Ser233fs)

dbSNP: rs1817872999
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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 RCV001223208 SCV001395346 pathogenic Multiple congenital exostosis 2019-09-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser233Leufs*19) in the EXT1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with multiple osteochondromas (PMID: 24532482). 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.

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