ClinVar Miner

Submissions for variant NM_000127.3(EXT1):c.1911C>A (p.Tyr637Ter)

dbSNP: rs1586989220
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000803549 SCV000943427 pathogenic Multiple congenital exostosis 2018-12-09 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). 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). 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). This variant has been observed in individuals with multiple osteochondromas (PMID: 29126381, Invitae). 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.
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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