ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.1325_1346delinsATTTT (p.Ala442fs)

dbSNP: rs587778903
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Total submissions: 3
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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 RCV000502293 SCV000592403 pathogenic Lynch syndrome 2014-12-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002383960 SCV002689071 pathogenic Hereditary cancer-predisposing syndrome 2022-06-29 criteria provided, single submitter clinical testing The c.1325_1346del22insATTTT pathogenic mutation, located in coding exon 12 of the MLH1 gene, results from the deletion of 22 nucleotides and insertion of 5 nucleotides causing a translational frameshift with a predicted alternate stop codon (p.A442Dfs*31). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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. RCV003449398 SCV004187748 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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