ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.51_61del (p.Gly18fs)

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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 RCV002335997 SCV002644625 pathogenic Hereditary cancer-predisposing syndrome 2018-08-13 criteria provided, single submitter clinical testing The c.51_61del11 pathogenic mutation, located in coding exon 1 of the MSH2 gene, results from a deletion of 11 nucleotides at nucleotide positions 51 to 61, causing a translational frameshift with a predicted alternate stop codon (p.G18Lfs*60). 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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