ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.87_222+48del

dbSNP: rs2145722767
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001379777 SCV001577642 likely pathogenic Rhabdoid tumor predisposition syndrome 2 2020-08-11 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Loss-of-function variants in SMARCA4 are known to be pathogenic (PMID: 24658001, 24658002). This variant has not been reported in the literature in individuals with SMARCA4-related conditions. This variant is not present in population databases (ExAC no frequency). This variant results in the deletion of part of exon 2 (c.87_222+48del) of the SMARCA4 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.

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