ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.3774+4A>G

dbSNP: rs1600390948
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001021102 SCV001182677 uncertain significance Hereditary cancer-predisposing syndrome 2024-08-13 criteria provided, single submitter clinical testing The c.3774+4A>G intronic variant results from an A to G substitution 4 nucleotides after coding exon 25 in the SMARCA4 gene. This nucleotide position is highly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration may result in the creation or strengthening of a novel splice donor site; however, direct evidence is insufficient (Ambry internal data). Based on the available evidence, the clinical significance of this variant remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV001222284 SCV001394378 uncertain significance Rhabdoid tumor predisposition syndrome 2 2023-10-25 criteria provided, single submitter clinical testing This sequence change falls in intron 26 of the SMARCA4 gene. It does not directly change the encoded amino acid sequence of the SMARCA4 protein. It affects a nucleotide within the consensus splice site. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SMARCA4-related conditions. ClinVar contains an entry for this variant (Variation ID: 824190). 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 is not likely to affect RNA splicing. 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.
Genome-Nilou Lab RCV001809931 SCV002056875 uncertain significance Intellectual disability, autosomal dominant 16 2021-07-15 criteria provided, single submitter clinical testing

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