ClinVar Miner

Submissions for variant NM_000127.3(EXT1):c.535C>T (p.Gln179Ter)

dbSNP: rs886039561
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000255895 SCV000322408 pathogenic not provided 2020-09-30 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 19810120, 17041877, 17113868)
Labcorp Genetics (formerly Invitae), Labcorp RCV001859483 SCV002229131 pathogenic Multiple congenital exostosis 2021-03-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln179*) in the EXT1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in EXT1 are known to be pathogenic (PMID: 10679937, 11391482, 19810120). This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with multiple osteochondromas (PMID: 17041877). ClinVar contains an entry for this variant (Variation ID: 265468). For these reasons, this variant has been classified as Pathogenic.

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