ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.1784dup (p.Asn596fs)

dbSNP: rs1553368518
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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 RCV000570383 SCV000676106 pathogenic Hereditary cancer-predisposing syndrome 2017-06-02 criteria provided, single submitter clinical testing The c.1784dupT pathogenic mutation, located in coding exon 12 of the MSH2 gene, results from a duplication of T at nucleotide position 1784, causing a translational frameshift with a predicted alternate stop codon (p.N596Qfs*2). 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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