ClinVar Miner

Submissions for variant NM_000127.3(EXT1):c.1835G>A (p.Trp612Ter)

dbSNP: rs2488089187
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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 RCV003030000 SCV003331469 pathogenic Multiple congenital exostosis 2022-07-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp612*) 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: 19810120). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV004725471 SCV005333358 pathogenic not provided 2023-09-18 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge

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