ClinVar Miner

Submissions for variant NM_000127.3(EXT1):c.1722+1G>A

dbSNP: rs1823350857
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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 RCV003499953 SCV004295256 pathogenic Multiple congenital exostosis 2023-12-22 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 8 of the EXT1 gene. RNA analysis indicates that disruption of this splice site induces altered splicing and likely results in a shortened protein product. This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individual(s) with multiple osteochondromas (PMID: 18165274, 23262345). It has also been observed to segregate with disease in related individuals. Studies have shown that disruption of this splice site results in skipping of exon 8, but is expected to preserve the integrity of the reading-frame (PMID: 23262345). For these reasons, this variant has been classified as Pathogenic.

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