ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.1567G>T (p.Glu523Ter)

dbSNP: rs2086888561
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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 RCV001067641 SCV001232710 pathogenic Rhabdoid tumor predisposition syndrome 2 2019-03-15 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as 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 sequence change creates a premature translational stop signal (p.Glu523*) in the SMARCA4 gene. It is expected to result in an absent or disrupted protein product.

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