ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.1119-5C>T

dbSNP: rs1555756257
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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 RCV000575409 SCV000664261 uncertain significance Hereditary cancer-predisposing syndrome 2021-10-18 criteria provided, single submitter clinical testing The c.1119-5C>T intronic variant results from a C to T substitution 5 nucleotides upstream from coding exon 6 in the SMARCA4 gene. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. This variant has been detected in multiple individuals with no reported features of Coffin-Siris syndrome-associated disease (Ambry internal data). Based on the supporting evidence, the association of this alteration with rhabdoid tumor predisposition syndrome is unknown; however, the association of this alteration with Coffin-Siris syndrome is unlikely.
Labcorp Genetics (formerly Invitae), Labcorp RCV001403850 SCV001605735 likely benign Rhabdoid tumor predisposition syndrome 2 2022-09-23 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001809601 SCV002056158 uncertain significance Intellectual disability, autosomal dominant 16 2021-07-15 criteria provided, single submitter clinical testing

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