ClinVar Miner

Submissions for variant NC_000019.10:g.(?_11039458)_(11039553_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000470732 SCV000563905 uncertain significance Rhabdoid tumor predisposition syndrome 2 2017-01-06 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon 30 of the SMARCA4 gene. This is predicted to lead to an in-frame deletion of 96 nucleotides encoding 32 amino acid residues, preserving the integrity of the reading frame. This gross deletion has not been reported in the literature in individuals with a SMARCA4-related disease. Tissue-specific transcript isoforms that include or skip exon 30 (also referred as exon 28B) have been described in the literature (PMID: 18437052). The clinical significance of this deletion is not fully understood. In summary, this variant is an in-frame deletion of exon 30 with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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