ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.104_105dup (p.Leu36fs)

dbSNP: rs2465583222
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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 RCV002389762 SCV002700481 pathogenic Hereditary cancer-predisposing syndrome 2022-03-03 criteria provided, single submitter clinical testing The c.104_105dupGC pathogenic mutation, located in coding exon 1 of the MSH2 gene, results from a duplication of GC at nucleotide position 104, causing a translational frameshift with a predicted alternate stop codon (p.L36Afs*29). 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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