ClinVar Miner

Submissions for variant NM_001042492.2(NF1):c.2351_2352delinsC (p.Trp784fs) (rs1567848147)

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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 RCV000722021 SCV000853196 pathogenic Optic nerve glioma 2016-10-19 criteria provided, single submitter clinical testing This is a frameshift alteration in which two nucleotides are deleted (coding nucleotides 2351 through 2352) and replaced with a C; this alteration is predicted to change a Tryptophan to a Serine at amino acid codon 784, shift the reading frame and result in a premature stop codon 6 amino acids downstream. Classification criteria: PVS1, PS4, PM2, PP4.

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