ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.1762-10C>G

dbSNP: rs754221543
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001235586 SCV001408277 uncertain significance Rhabdoid tumor predisposition syndrome 2 2020-12-02 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with SMARCA4-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change falls in intron 10 of the SMARCA4 gene. It does not directly change the encoded amino acid sequence of the SMARCA4 protein.

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