ClinVar Miner

Submissions for variant NM_207122.2(EXT2):c.939+1G>T

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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 RCV003499969 SCV004294767 pathogenic Exostoses, multiple, type 2 2024-02-02 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 5 of the EXT2 gene. RNA analysis indicates that disruption of this splice site induces altered splicing and may result in an absent or disrupted 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: 27748933). 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 5 and introduces a premature termination codon (PMID: 27748933). The resulting mRNA is expected to undergo nonsense-mediated decay. For these reasons, this variant has been classified as Pathogenic.

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