ClinVar Miner

Submissions for variant NM_000127.3(EXT1):c.1404C>G (p.Tyr468Ter)

dbSNP: rs1811940837
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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 RCV001224323 SCV001396513 pathogenic Multiple congenital exostosis 2024-05-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr468*) 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 premature translational stop signal has been observed in individual(s) with multiple osteochondromas (PMID: 12490068, 18976157). ClinVar contains an entry for this variant (Variation ID: 952253). For these reasons, this variant has been classified as Pathogenic.

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