ClinVar Miner

Submissions for variant NM_001128849.2(SMARCA4):c.3565C>T (p.Arg1189Ter) (rs267607070)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000760411 SCV000890288 pathogenic not provided 2018-12-19 criteria provided, single submitter clinical testing The R1189X variant in the SMARCA4 gene has been previously reported in two siblings with rhabdoid tumors (Schneppenheim 2010) as well as in a small cell carcinoma of the ovary, hypercalcemia type (Ramos 2014). This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R1189X variant is not observed in large population cohorts (Lek et al., 2016). Therefore, the R1189X variant is considered a pathogenic variant, and its presence is consistent with a SMARCA4-related disorder.
OMIM RCV000006932 SCV000027128 pathogenic Rhabdoid tumor predisposition syndrome 2 2010-02-12 no assertion criteria provided literature only

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