ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.989C>A (p.Ser330Ter) (rs786202848)

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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 RCV000165878 SCV000216629 pathogenic Hereditary cancer-predisposing syndrome 2014-09-23 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Invitae RCV000233544 SCV000283864 pathogenic Lynch syndrome 2016-01-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 330 (p.Ser330*). It is expected to result in an absent or disrupted protein product. Truncating variants in MSH6 are known to be pathogenic. This particular truncation has been reported in the literature in an individual affected with multiple primary malignant tumors. Unfortunately, the clinical history of this individual was not provided (PMID: 25248401). For these reasons, this variant has been classified as Pathogenic.

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