ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.3873+6del

gnomAD frequency: 0.00002  dbSNP: rs751936459
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000225788 SCV000286057 likely benign Rhabdoid tumor predisposition syndrome 2 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV000480100 SCV000571902 likely benign not specified 2016-10-05 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genome-Nilou Lab RCV001808621 SCV002056212 likely benign Intellectual disability, autosomal dominant 16 2021-07-15 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003477805 SCV004220435 uncertain significance not provided 2024-02-26 criteria provided, single submitter clinical testing The SMARCA4 c.3873+6del variant has not been reported in individuals with SMARCA4-related conditions in the published literature. The frequency of this variant in the general population, 0.000056 (6/107384 chromosomes (Genome Aggregation Database, http://gnomad.broadinstitute.org)), is uninformative in the assessment of its pathogenicity. Analysis of this variant using software algorithms for the prediction of the effect of nucleotide changes on splicing yielded predictions that this variant does not affect SMARCA4 mRNA splicing. Based on the available information, we are unable to determine the clinical significance of this variant.

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