ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.52_59del (p.Arg18fs)

dbSNP: rs2125694037
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001961904 SCV002130364 pathogenic Hereditary nonpolyposis colorectal neoplasms 2021-07-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg18Glyfs*10) in the MLH1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MLH1 are known to be pathogenic (PMID: 15713769, 24362816). This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with MLH1-related conditions. For these reasons, this variant has been classified as Pathogenic.
Myriad Genetics, Inc. RCV003452023 SCV004187536 pathogenic Colorectal cancer, hereditary nonpolyposis, type 2 2023-07-07 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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