ClinVar Miner

Submissions for variant NM_000127.3(EXT1):c.1225C>T (p.Gln409Ter)

dbSNP: rs755694640
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003314854 SCV004014195 pathogenic not provided 2023-07-12 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); This variant is associated with the following publications: (PMID: 25525159, 16088908)
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV003325250 SCV004031159 pathogenic Exostoses, multiple, type 1 2023-08-30 criteria provided, single submitter clinical testing The EXT1 c.1225C>T (p.Gln409Ter) change is a nonsense variant that is predicted to cause premature protein truncation or absence of protein due to nonsense-mediated decay. This variant has been reported in individuals with multiple osteochondromas (PMID: 16088908, 19810120). This variant is also absent in gnomAD v2.1.1 (https://gnomad.broadinstitute.org/). In summary, this variant meets criteria to be classified as pathogenic.

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