ClinVar Miner

Submissions for variant NM_000127.2(EXT1):c.1911C>A (p.Tyr637Ter) (rs1586989220)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000803549 SCV000943427 pathogenic Multiple congenital exostosis 2018-12-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr637*) 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 individuals with multiple osteochondromas (PMID: 29126381, Invitae). A different variant (c.1911C>G) giving rise to the same protein effect observed here (p.Tyr637*) has been determined to be pathogenic (PMID: 29529714). 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.
Department of Laboratory Medicine, Fuzhou Second Hospital Affiliated to Xiamen University RCV000803549 SCV001167351 pathogenic Multiple congenital exostosis criteria provided, single submitter research

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