ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.4077T>A (p.Cys1359Ter)

dbSNP: rs2146700981
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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 RCV001387027 SCV001587520 pathogenic Rhabdoid tumor predisposition syndrome 2 2020-10-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys1359*) in the SMARCA4 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SMARCA4-related conditions. Loss-of-function variants in SMARCA4 are known to be pathogenic (PMID: 24658001, 24658002). For these reasons, this variant has been classified as Pathogenic.

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