ClinVar Miner

Submissions for variant NM_000127.3(EXT1):c.1417+2dup

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003499955 SCV004295261 likely pathogenic Multiple congenital exostosis 2023-07-14 criteria provided, single submitter clinical testing This sequence change falls in intron 5 of the EXT1 gene. It does not directly change the encoded amino acid sequence of the EXT1 protein. It affects a nucleotide within the consensus splice site. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with hereditary multiple osteochondromas (PMID: 17589361; Invitae). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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