ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.227dup (p.Cys77fs)

dbSNP: rs2125735738
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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 RCV001999897 SCV002233174 pathogenic Hereditary nonpolyposis colorectal neoplasms 2023-11-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys77Metfs*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: 1452609). For these reasons, this variant has been classified as Pathogenic.
Myriad Genetics, Inc. RCV003453848 SCV004186574 pathogenic Colorectal cancer, hereditary nonpolyposis, type 2 2023-07-12 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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