ClinVar Miner

Submissions for variant NM_000127.3(EXT1):c.852T>A (p.Tyr284Ter)

dbSNP: rs1057520608
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000440581 SCV000516577 pathogenic not provided 2015-04-03 criteria provided, single submitter clinical testing The Y284X nonsense variant in the EXT1 gene is predicted to cause loss of normal protein functioneither through protein truncation or nonsense-mediated mRNA decay. The Y284X variant was notobserved in approximately 6,500 individuals of European and African American ancestry in the NHLBIExome Sequencing Project, indicating it is not a common benign variant in these populations. Although thisvariant has not been reported previously to our knowledge, we consider it to be pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV000800945 SCV000940690 pathogenic Multiple congenital exostosis 2021-03-29 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with EXT1-related conditions. ClinVar contains an entry for this variant (Variation ID: 379472). This sequence change creates a premature translational stop signal (p.Tyr284*) 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).

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