ClinVar Miner

Submissions for variant NM_000127.3(EXT1):c.1320dup (p.Asn441Ter)

dbSNP: rs1811942900
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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 RCV001211728 SCV001383282 pathogenic Multiple congenital exostosis 2022-10-21 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individual(s) with osteochondromas (PMID: 11668521). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 941864). This sequence change creates a premature translational stop signal (p.Asn441*) 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).

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