ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.681_689delinsGAAAAAGG (p.Ala230fs)

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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 RCV002369545 SCV002664100 pathogenic Hereditary cancer-predisposing syndrome 2022-06-23 criteria provided, single submitter clinical testing The c.681_689delAAAAAAAGCinsGAAAAAGG pathogenic mutation, located in coding exon 4 of the MSH2 gene, results from the deletion of 9 nucleotides and insertion of 8 nucleotides causing a translational frameshift with a predicted alternate stop codon (p.A230Vfs*16). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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