ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.1770_1772delinsC (p.Leu590fs)

dbSNP: rs2125984594
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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 RCV001357989 SCV001553608 pathogenic Carcinoma of colon no assertion criteria provided clinical testing The MLH1 p.Leu590PhefsX2 variant was not identified in the literature nor was it identified in the following databases: dbSNP, ClinVar, GeneInsight-COGR, Cosmic, MutDB, UMD-LSDB, Zhejiang Colon Cancer Database, Mismatch Repair Genes Variant Database, or the Insight Hereditary Tumors Database. The variant was not identified in the following control databases: the 1000 Genomes Project, the NHLBI GO Exome Sequencing Project, the Exome Aggregation Consortium (August 8th 2016), or the Genome Aggregation Database (Feb 27, 2017). The c.1770_1772delinsC variant is predicted to cause a frameshift, which alters the protein's amino acid sequence beginning at codon 590 and leads to a premature stop codon at position 591. This alteration is then predicted to result in a truncated or absent protein and loss of function. Loss of function variants of the MLH1 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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