ClinVar Miner

Submissions for variant NM_000127.3(EXT1):c.2104C>T (p.Gln702Ter)

dbSNP: rs1554656266
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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 RCV000630815 SCV000751782 pathogenic Multiple congenital exostosis 2019-10-03 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts the C-terminus of the EXT1 protein. Other variant(s) that disrupt this region (p.Trp711*) have been determined to be pathogenic (PMID: 29620724, Invitae). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. This variant has been reported in individuals affected with multiple osteochondromas (PMID: 19810120, Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change results in a premature translational stop signal in the EXT1 gene (p.Gln702*). While this is not anticipated to result in nonsense mediated decay, it is expected to delete the last 45 amino acids of the EXT1 protein.

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