ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.1132_1133del (p.Glu378fs)

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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 RCV002322845 SCV002608177 pathogenic Hereditary cancer-predisposing syndrome 2020-04-13 criteria provided, single submitter clinical testing The c.1132_1133delGA pathogenic mutation, located in coding exon 7 of the MSH2 gene, results from a deletion of two nucleotides at nucleotide positions 1132 to 1133, causing a translational frameshift with a predicted alternate stop codon (p.E378Rfs*10). 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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