ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.3547-3C>T

dbSNP: rs927543047
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000816279 SCV000956780 likely benign Rhabdoid tumor predisposition syndrome 2 2023-08-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002453855 SCV002615333 uncertain significance Hereditary cancer-predisposing syndrome 2020-01-09 criteria provided, single submitter clinical testing The c.3547-3C>T intronic variant results from a C to T substitution 3 nucleotides upstream from coding exon 25 in the SMARCA4 gene. This nucleotide position is not well conserved in available vertebrate species. Using two different splice site prediction tools, this alteration is predicted by ESEfinder to slightly weaken the efficiency of the native splice acceptor site, but is not predicted to have a deleterious effect on this splice acceptor site by BDGP; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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