ClinVar Miner

Submissions for variant NM_207122.2(EXT2):c.1171C>T (p.Gln391Ter)

dbSNP: rs570580540
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001267336 SCV001445517 pathogenic Inborn genetic diseases 2017-12-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002541631 SCV003284022 pathogenic Exostoses, multiple, type 2 2022-06-04 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 986095). This premature translational stop signal has been observed in individual(s) with hereditary multiple osteochondromatosis (PMID: 32293802). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln391*) 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).
Clinical Genetics and Genomics, Karolinska University Hospital RCV002541631 SCV005013295 pathogenic Exostoses, multiple, type 2 2024-01-17 criteria provided, single submitter clinical testing

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