ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.155_158del (p.Lys52fs)

dbSNP: rs587778923
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000075264 SCV000106233 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation resulting in a stop codon
Ambry Genetics RCV001012121 SCV001172539 pathogenic Hereditary cancer-predisposing syndrome 2018-01-10 criteria provided, single submitter clinical testing The c.155_158delAAGA pathogenic mutation, located in coding exon 2 of the MLH1 gene, results from a deletion of 4 nucleotides between positions 155 and 158, causing a translational frameshift with a predicted alternate stop codon. 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. RCV003451035 SCV004186476 pathogenic Colorectal cancer, hereditary nonpolyposis, type 2 2023-07-11 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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