ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.1737+2T>C

dbSNP: rs1556003801
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001069943 SCV001235143 pathogenic Neurofibromatosis, type 2 2022-08-10 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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. ClinVar contains an entry for this variant (Variation ID: 863067). Disruption of this splice site has been observed in individuals with neurofibromatosis type 2 (PMID: 16983642). This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 15 of the NF2 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.

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