ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.2583del (p.Gly862fs)

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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 RCV002426075 SCV002740388 uncertain significance Hereditary cancer-predisposing syndrome 2021-03-19 criteria provided, single submitter clinical testing The c.2583delA variant, located in coding exon 15 of the MSH2 gene, results from a deletion of one nucleotide at nucleotide position 2583, causing a translational frameshift with a predicted alternate stop codon (p.G862Dfs*30). This alteration occurs at the 3' terminus of theMSH2 gene, is not expected to trigger nonsense-mediated mRNAdecay, and only impacts the last 73 amino acids of the protein. The exact functional effect of this alteration is unknown. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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