ClinVar Miner

Submissions for variant NM_207122.2(EXT2):c.871G>T (p.Glu291Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002293830 SCV002586783 pathogenic not provided 2022-04-18 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
Invitae RCV003774983 SCV004628139 pathogenic Exostoses, multiple, type 2 2023-11-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu291*) in the EXT2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in EXT2 are known to be pathogenic (PMID: 10679937, 19810120). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with EXT2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1712112). For these reasons, this variant has been classified as Pathogenic.

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