ClinVar Miner

Submissions for variant NM_000127.3(EXT1):c.490_491del (p.Asp164fs)

dbSNP: rs1817879125
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001054847 SCV001219202 pathogenic Multiple congenital exostosis 2019-01-28 criteria provided, single submitter clinical testing 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). This variant has been observed in an individual affected with multiple osteochondromas (PMID: 17041877). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Asp164Profs*24) in the EXT1 gene. It is expected to result in an absent or disrupted protein product.
GeneDx RCV002469332 SCV002765633 pathogenic not provided 2022-12-18 criteria provided, single submitter clinical testing Identified in an individual with clinical and radiographical diagnosis of multiple osteochondromas in the published literature (PMID: 17041877); Frameshift 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); This variant is associated with the following publications: (PMID: 17041877)

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