ClinVar Miner

Submissions for variant NM_207122.2(EXT2):c.1187G>A (p.Trp396Ter)

dbSNP: rs750542485
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000812182 SCV000952486 pathogenic Exostoses, multiple, type 2 2018-12-21 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). A different variant (c.1188G>A) giving rise to the same protein effect observed here (p.Trp396*) has been determined to be pathogenic (PMID: 10480354). This suggests that this variant is also likely to be causative of disease. This variant has been observed in an individual affected with multiple osteochondromatosis (PMID: 19810120). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Trp396*) in the EXT2 gene. It is expected to result in an absent or disrupted protein product.

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