ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.2427_2428del (p.Glu809fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002450431 SCV002732896 pathogenic Hereditary cancer-predisposing syndrome 2015-10-15 criteria provided, single submitter clinical testing The c.2427_2428delGA pathogenic mutation, located in coding exon 14 of the MSH2 gene, results from a deletion of two nucleotides at positions 2427 and 2428, 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).

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