ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.2922del (p.Phe975fs)

dbSNP: rs797045980
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000193167 SCV000248960 pathogenic Rhabdoid tumor predisposition syndrome 2 2014-11-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000193167 SCV004244943 pathogenic Rhabdoid tumor predisposition syndrome 2 2023-11-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Phe975Serfs*44) in the SMARCA4 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SMARCA4 are known to be pathogenic (PMID: 24658001, 24658002). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SMARCA4-related conditions. ClinVar contains an entry for this variant (Variation ID: 212245). For these reasons, this variant has been classified as Pathogenic.

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