ClinVar Miner

Submissions for variant NM_000127.3(EXT1):c.1678_1679dup (p.Val561fs)

dbSNP: rs1823352107
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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 RCV001205555 SCV001376817 pathogenic Multiple congenital exostosis 2019-06-04 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with EXT1-related conditions. This sequence change creates a premature translational stop signal (p.Val561Profs*61) 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). 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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