ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.1233_1254dup (p.Ile419delinsCysHisArgGlyTer)

dbSNP: rs1575536254
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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 RCV001010466 SCV001170668 pathogenic Hereditary cancer-predisposing syndrome 2021-08-09 criteria provided, single submitter clinical testing The c.1233_1254dup22 variant, located in coding exon 12 of the MLH1 gene, results from a duplication of TGTCACAGAGGATAAGACAGAT at nucleotide position 1233, causing a translational frameshift with a predicted alternate stop codon (p.I419Cfs*5). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Myriad Genetics, Inc. RCV003455069 SCV004188892 pathogenic Colorectal cancer, hereditary nonpolyposis, type 2 2023-07-19 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

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