ClinVar Miner

Submissions for variant NM_207122.2(EXT2):c.670C>T (p.Gln224Ter)

dbSNP: rs1565199251
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000689474 SCV000817127 pathogenic Exostoses, multiple, type 2 2018-03-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln224*) in the EXT2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with EXT2-related disease. Loss-of-function variants in EXT2 are known to be pathogenic (PMID: 19810120). For these reasons, this variant has been classified as Pathogenic.
CeGaT Center for Human Genetics Tuebingen RCV001091957 SCV001248261 pathogenic not provided 2018-10-01 criteria provided, single submitter clinical testing

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