ClinVar Miner

Submissions for variant NM_000127.3(EXT1):c.500C>A (p.Ser167Ter)

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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 RCV005200739 SCV005835401 pathogenic Multiple congenital exostosis 2024-11-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser167*) 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 hereditary multiple osteochondromas (PMID: 16283885). For these reasons, this variant has been classified as Pathogenic.

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