ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.1746dup (p.Arg583Ter)

dbSNP: rs863224474
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000195900 SCV000253773 pathogenic Lynch syndrome 2015-04-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 583 (p.Arg583*). It is expected to result in an absent or disrupted protein product. While this particular sequence change has not been reported in the literature, truncating sequence changes in MSH6 are known to be pathogenic (PMID: 24362816, 18269114). For these reasons, this variant has been classified as Pathogenic.
Invitae RCV001389260 SCV001590552 pathogenic Hereditary nonpolyposis colorectal neoplasms 2015-04-24 criteria provided, single submitter clinical testing While this particular sequence change has not been reported in the literature, truncating sequence changes in MSH6 are known to be pathogenic (PMID: 24362816, 18269114). For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal at codon 583 (p.Arg583*). It is expected to result in an absent or disrupted protein product.

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