ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.1039-7_1040del

gnomAD frequency: 0.00061  dbSNP: rs1559551447
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000987167 SCV001136399 uncertain significance Colorectal cancer, hereditary nonpolyposis, type 2 2019-05-28 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV000987167 SCV004185750 likely pathogenic Colorectal cancer, hereditary nonpolyposis, type 2 2023-07-19 criteria provided, single submitter clinical testing This variant is considered likely pathogenic. This variant occurs within a consensus splice junction and is predicted to result in abnormal mRNA splicing of either an out-of-frame exon or an in-frame exon necessary for protein stability and/or normal function.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV004017768 SCV004847960 pathogenic Lynch syndrome 2017-08-11 criteria provided, single submitter clinical testing The c.1039-7_1040del variant in MLH1 has not been previously reported in individuals with Lynch syndrome. Data from large population studies is insufficient to assess the frequency of this variant. This deletion is located in the 3' splice region and spans into two nucleotides in the exon. This is predicted to cause altered splicing leading to an abnormal or absent protein. In summary, this variant meets criteria to be classified as pathogenic for Lynch syndrome in an autosomal dominant manner based on the predicted impact of the variant.

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