ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.710del (p.Gly237fs)

dbSNP: rs587779319
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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) RCV000075027 SCV000108248 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation resulting in a stop codon
Ambry Genetics RCV002362705 SCV002663137 pathogenic Hereditary cancer-predisposing syndrome 2021-03-09 criteria provided, single submitter clinical testing The c.710delG pathogenic mutation, located in coding exon 4 of the MSH6 gene, results from a deletion of one nucleotide at nucleotide position 710, causing a translational frameshift with a predicted alternate stop codon (p.G237Dfs*9). This alteration has been reported in an Australian Lynch syndrome family meeting Amsterdam II criteria (Talseth-Palmer BA et al. Hered Cancer Clin Pract, 2010 May;8:5). In addition to the clinical data presented in the literature, 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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