ClinVar Miner

Submissions for variant NM_207122.2(EXT2):c.1205C>A (p.Ser402Ter)

dbSNP: rs1955075568
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001069093 SCV001234239 pathogenic Exostoses, multiple, type 2 2019-02-04 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in EXT2 are known to be pathogenic (PMID: 10679937, 19810120). This variant has been observed in an individual with multiple osteochondromas (PMID: 16088908). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ser402*) in the EXT2 gene. It is expected to result in an absent or disrupted protein product.

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