ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.3980_3981del (p.Glu1327fs)

dbSNP: rs2515347783
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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 RCV003031392 SCV003318784 pathogenic Rhabdoid tumor predisposition syndrome 2 2022-04-18 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu1327Glyfs*33) 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 has not been reported in the literature in individuals affected with SMARCA4-related conditions. For these reasons, this variant has been classified as Pathogenic.

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