ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.1047_1049delinsT (p.Pro350fs)

dbSNP: rs1559551570
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000695829 SCV000824350 pathogenic Hereditary nonpolyposis colorectal neoplasms 2018-05-24 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in MLH1 are known to be pathogenic (PMID: 15713769, 24362816). This variant has not been reported in the literature in individuals with MLH1-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Pro350Argfs*11) in the MLH1 gene. It is expected to result in an absent or disrupted protein product.
Myriad Genetics, Inc. RCV003453463 SCV004189966 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003478424 SCV004220056 likely pathogenic not provided 2023-04-13 criteria provided, single submitter clinical testing This frameshift variant alters the translational reading frame of the MLH1 mRNA and is predicted to cause the premature termination of MLH1 protein synthesis. The variant has not been reported in individuals with MLH1-related diseases in the published literature. It also has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). Based on the available information, this variant is classified as likely pathogenic.

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