ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.679del (p.Glu227fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV003452511 SCV004188870 pathogenic Colorectal cancer, hereditary nonpolyposis, type 2 2023-07-17 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.
Labcorp Genetics (formerly Invitae), Labcorp RCV005100140 SCV005839942 pathogenic Hereditary nonpolyposis colorectal neoplasms 2024-10-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu227Asnfs*2) 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 (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with MLH1-related conditions. ClinVar contains an entry for this variant (Variation ID: 2674315). For these reasons, this variant has been classified as Pathogenic.

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