ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.2316_2317dup (p.Leu773fs)

dbSNP: rs1553413693
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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 RCV000500571 SCV000592605 pathogenic Carcinoma of colon no assertion criteria provided clinical testing The MSH6 p.Leu773Argfsx3 variant was not identified in the literature nor was it identified in the in dbSNP, NHLBI GO Exome Sequencing Project, Exome Aggregation Consortium (August 8, 2016), ClinVar, Clinvitae, COSMIC, “Mismatch Repair Genes Variant”, “MMR Gene Unclassified Variants”, InSiGHT Colon Cancer Gene Variant (LOVD), Zhejiang Colon Cancer (LOVD), GeneInsight – COGR and UMD databases. The c.2316_2317dup variant is predicted to cause a frameshift, which alters the protein's amino acid sequence beginning at codon 773 and leads to a premature stop codon 3 codons downstream. This alteration is then 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 this 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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