ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.1855G>T (p.Glu619Ter)

dbSNP: rs1669384406
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001355389 SCV001550263 pathogenic Carcinoma of colon no assertion criteria provided clinical testing The MSH6 p.Glu619* variant was not identified in the literature nor was it identified in the following databases: dbSNP, ClinVar, UMD-LSDB, Exome Aggregation Consortium (August 8th 2016) or the Genome Aggregation Database (Feb 27, 2017). The c.1855G>T variant leads to a premature stop codon at position 619, which is predicted to result in a truncated or absent protein and loss of function. Loss of function variants of the MSH6 gene are an established mechanism of disease in Lynch Syndrome and is the type of variant expected to cause the disorder. In summary, based on the above information, this variant meets our laboratory’s criteria to be classified as pathogenic.

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