ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.380dup (p.Asn127fs)

dbSNP: rs1558458884
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759833 SCV000889437 pathogenic not provided 2017-11-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV001021203 SCV001182785 pathogenic Hereditary cancer-predisposing syndrome 2018-03-07 criteria provided, single submitter clinical testing The c.380dupA variant, located in coding exon 3 of the MSH2 gene, results from a duplication of A at nucleotide position 380, causing a translational frameshift with a predicted alternate stop codon (p.N127Kfs*6). 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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