ClinVar Miner

Submissions for variant NM_207122.2(EXT2):c.1286G>A (p.Trp429Ter)

dbSNP: rs2135128105
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001956059 SCV002237785 pathogenic Exostoses, multiple, type 2 2021-06-28 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. This variant is also known as p.Trp462X. This premature translational stop signal has been observed in individual(s) with multiple osteochondromas (PMID: 19810120, 28849184). This sequence change creates a premature translational stop signal (p.Trp429*) 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).

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