ClinVar Miner

Submissions for variant NM_207122.2(EXT2):c.928C>T (p.Gln310Ter)

dbSNP: rs1555005398
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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 RCV000641563 SCV000763205 pathogenic Exostoses, multiple, type 2 2018-11-24 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 affected with autosomal dominant hereditary multiple osteochondromatosis (Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln310*) in the EXT2 gene. It is expected to result in an absent or disrupted protein product.

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