ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.4171-1854T>C

gnomAD frequency: 0.00001  dbSNP: rs1157173095
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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 RCV000684997 SCV000812465 likely benign Rhabdoid tumor predisposition syndrome 2 2024-06-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV001021984 SCV001183670 uncertain significance Hereditary cancer-predisposing syndrome 2023-09-26 criteria provided, single submitter clinical testing The c.4171-5T>C intronic variant results from a T to C substitution 5 nucleotides upstream from coding exon 29 in the SMARCA4 gene. This nucleotide position is highly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001811439 SCV001477774 uncertain significance not provided 2020-01-31 criteria provided, single submitter clinical testing The SMARCA4 c.4171-5T>C variant (rs1157173095), to our knowledge, is not reported in the medical literature but is reported in the ClinVar database (Variation ID: 565433). This variant is only observed on 2 alleles in the Genome Aggregation Database, indicating it is not a common polymorphism. This is an intronic variant in a weakly conserved nucleotide, but computational analyses (Alamut v.2.11) predict that this variant may impact splicing by weakening the nearby canonical acceptor splice site. However, given the lack of clinical and functional data, the significance of this variant is uncertain at this time.
Sema4, Sema4 RCV001021984 SCV002532948 uncertain significance Hereditary cancer-predisposing syndrome 2022-02-04 criteria provided, single submitter curation

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