ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.1477G>T (p.Glu493Ter)

dbSNP: rs267608046
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000074658 SCV000107860 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation resulting in a stop codon
Molecular Diagnostics Laboratory, Catalan Institute of Oncology RCV005251057 SCV005901713 pathogenic Hereditary cancer-predisposing syndrome 2025-02-25 criteria provided, single submitter clinical testing PVS1, PP4, PM2_Supporting c.1477G>T, located in exon 4 of the MSH6 gene, is expected to result in loss of function by premature protein truncation before codon 493, p.(Glu493*)(PVS1). It is not present in the population database gnomAD v2.1.1, non-cancer dataset (PM2_Supporting). No effect is predicted on splicing by computational tools. It has been identified in a patient affected with colorectal cancer and its tumour immunohistochemistry (IHC) revealed loss of MSH6 protein expression (internal data)(PP4). To our knowledge, functional studies have not been reported for this variant. In addition, the variant was reported as a pathogenic variant in the Insight database (2013/09/05:‘Coding sequence variation resulting in a stop codon’). Based on currently available information, the variant c.1477G>T is classified as a pathogenic variant according to ClinGen-MMR Guidelines version 3.1.

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