ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.2295_2296insTA (p.Ile766Ter) (rs863225393)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000490838 SCV000580396 pathogenic Hereditary cancer-predisposing syndrome 2015-12-31 criteria provided, single submitter clinical testing The c.2295_2296insTA pathogenic mutation, located in coding exon 14 of the MSH2 gene, results from an insertion of two nucleotides at position 2295, causing a translational frameshift with a predicted alternate stop codon. Since frameshifts are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294).
Mayo Clinic Laboratories, Mayo Clinic RCV000202054 SCV000257173 likely pathogenic not provided no assertion criteria provided research

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