ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.1958_1965del (p.Asn653fs) (rs1558518449)

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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 RCV000722035 SCV000853212 pathogenic Glioblastoma 2017-06-26 criteria provided, single submitter clinical testing This is a frameshift alteration in which 8 nucleotides are deleted at coding nucleotides 1958 through 1965. This is predicted to change a Asparagine to a Isoleucine at amino acid codon 653, shift the reading frame and result in a premature stop codon 3 amino acids downstream. Classification criteria: PVS1, PP4.

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