ClinVar Miner

Submissions for variant NM_000127.3(EXT1):c.540_962+399del

dbSNP: rs2130039927
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001380462 SCV001578544 pathogenic Multiple congenital exostosis 2020-02-12 criteria provided, single submitter clinical testing 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. This variant disrupts the p.Arg280 amino acid residue in EXT1. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 9521425, 9463333). This suggests that this residue is clinically-significant, and that variants that disrupt this residue are likely to be disease-causing. 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 variant results in the deletion of part of exon 1 (c.540_962+399del) of the EXT1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.

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