ClinVar Miner

Submissions for variant NM_001128849.2(SMARCA4):c.535C>T (p.Gln179Ter) (rs1469271544)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital RCV000722032 SCV000853209 likely pathogenic Neuroblastoma 2017-06-19 criteria provided, single submitter clinical testing This is a nonsense alteration in which a C is replaced by a T at coding nucleotide 535 and is predicted to change a Glutamine to a premature stop codon at amino acid codon 179. Classification criteria: PVS1, PM2.

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