ClinVar Miner

Submissions for variant NM_207122.2(EXT2):c.2019-2del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003498981 SCV004261217 uncertain significance Exostoses, multiple, type 2 2023-11-13 criteria provided, single submitter clinical testing This sequence change affects a splice site in intron 13 of the EXT2 gene. While this variant is not anticipated to result in nonsense mediated decay, it likely alters RNA splicing and results in a disrupted protein product. This variant is present in population databases (rs747852029, gnomAD 0.0009%). Disruption of this splice site has been observed in individual(s) with multiple osteochondromas (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 available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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