ClinVar Miner

Submissions for variant NM_001167617.2(MLH1):c.942_943CA[1] (p.Thr315fs) (rs1553651073)

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Total submissions: 2
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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 RCV000500797 SCV000592402 pathogenic Lynch syndrome 2012-07-30 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000782128 SCV000916305 pathogenic Colon cancer no assertion criteria provided clinical testing The MLH1, c.1238_1239delCA, p.Thr412ArgfsX3 variant has not been reported in the literature nor previously identified by our laboratory. This variant is predicted to cause a frameshift, which alters the protein's amino acid sequence beginning at codon 413 and leads to a premature stop codon, 3 codons downstream. This alteration is then predicted to lead to a truncated or absent protein. Loss of function variants are an established mechanism of disease for the MLH1 gene. In summary, based on the above information, this variant is classified as pathogenic.

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