ClinVar Miner

Submissions for variant NM_207122.2(EXT2):c.67C>T (p.Arg23Ter)

gnomAD frequency: 0.00001  dbSNP: rs754533434
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000641564 SCV000763206 pathogenic Exostoses, multiple, type 2 2023-11-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg23*) 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 present in population databases (rs754533434, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with multiple osteochondromas (PMID: 9463333, 25591329, 25744876). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 534138). For these reasons, this variant has been classified as Pathogenic.
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001268416 SCV001447339 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
GeneDx RCV001268416 SCV001816409 pathogenic not provided 2022-10-17 criteria provided, single submitter clinical testing Identified in patients with hereditary multiple osteochondromas referred for genetic testing at GeneDx and in published literature (Wuyts et al., 1998; Li et al., 2018); 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 a significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25525159, 29541207, 25744876, 25591329, 30334991, 30806661, 28690282, 35806987, 9463333)
Baylor Genetics RCV000641564 SCV004192810 pathogenic Exostoses, multiple, type 2 2023-08-23 criteria provided, single submitter clinical testing

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