ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.2973+10T>G

dbSNP: rs2090031606
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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 RCV001896057 SCV002159036 uncertain significance Rhabdoid tumor predisposition syndrome 2 2020-11-22 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This sequence change falls in intron 20 of the SMARCA4 gene. It does not directly change the encoded amino acid sequence of the SMARCA4 protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SMARCA4-related conditions. 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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