ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.1300del (p.Ala434fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002380838 SCV002695584 pathogenic Hereditary cancer-predisposing syndrome 2018-05-15 criteria provided, single submitter clinical testing The c.1300delG pathogenic mutation, located in coding exon 8 of the MSH2 gene, results from a deletion of one nucleotide at nucleotide position 1300, causing a translational frameshift with a predicted alternate stop codon (p.A434Qfs*4). 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003476984 SCV004220944 pathogenic not provided 2023-08-08 criteria provided, single submitter clinical testing This variant alters the translational reading frame of the MSH2 mRNA and causes the premature termination of MSH2 protein synthesis. In the published literature, this variant has been reported in an individual with colorectal cancer (PMID: 36550560 (2022)). This variant has not been reported in large, multi-ethnic general populations (Genome Aggregation Database, http://gnomad.broadinstitute.org). Based on the available information, this variant is classified as pathogenic.

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