ClinVar Miner

Submissions for variant NM_000127.3(EXT1):c.1677_1678insTGTCATCACAGAC (p.Ala560fs)

dbSNP: rs1823352329
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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 RCV001042295 SCV001205971 pathogenic Multiple congenital exostosis 2019-12-11 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in EXT1 are known to be pathogenic (PMID: 10679937, 11391482, 19810120). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with EXT1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ala560Cysfs*10) in the EXT1 gene. It is expected to result in an absent or disrupted protein product.

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