ClinVar Miner

Submissions for variant NM_000127.3(EXT1):c.651_664delinsTTT (p.Lys218fs)

dbSNP: rs1817873963
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001239862 SCV001412764 pathogenic Multiple congenital exostosis 2019-06-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys218Glnfs*3) in the EXT1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with multiple osteochondromas (PMID: 19839753, 26961984, 24496678). The variant is also known as p.Lys218fsX220 in the literature. Loss-of-function variants in EXT1 are known to be pathogenic (PMID: 10679937, 11391482, 19810120). For these reasons, this variant has been classified as Pathogenic.

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