ClinVar Miner

Submissions for variant NM_003079.5(SMARCE1):c.715-4G>A

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002367555 SCV002662755 uncertain significance Hereditary cancer-predisposing syndrome 2020-03-30 criteria provided, single submitter clinical testing The c.715-4G>A intronic variant results from a G to A substitution 4 nucleotides upstream from coding exon 8 in the SMARCE1 gene. This nucleotide position is poorly conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is not predicted to have any significant effect on this splice acceptor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003638855 SCV004537711 likely benign Familial meningioma 2023-07-17 criteria provided, single submitter clinical testing

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